1. Iron deficiency anemia. Etiology. Pathogenesis.

Iron deficiency anemia is a condition characterized by low levels of red blood

cells due to insufficient iron in the body. The etiology, or causes, of iron
deficiency anemia can vary but commonly include:

1. Inadequate dietary intake: A diet lacking in iron-rich foods can lead to

insufficient iron stores in the body.

2. Blood loss: Chronic or recurrent blood loss, such as from heavy menstrual
periods, gastrointestinal bleeding, or certain medical conditions, can deplete
iron levels over time.

3. Poor iron absorption: Certain conditions affecting the digestive system,

such as celiac disease or inflammatory bowel disease, can impair the
absorption of iron from the diet.

The pathogenesis, or the development of iron deficiency anemia, involves a

disruption in the body's iron balance. When the body's iron stores are
depleted, it affects the production of hemoglobin, the protein responsible for
carrying oxygen in red blood cells. Without adequate iron, the production of
red blood cells decreases, resulting in anemia. Iron deficiency can also affect
other aspects of red blood cell function and lead to symptoms such as
fatigue, weakness, and shortness of breath.

2. Autoimmune hemolytic anemia. Causes. Symptoms.

Autoimmune hemolytic anemia (AIHA) is a condition characterized by the

destruction of red blood cells by the immune system. The causes of AIHA
can include:

1. Idiopathic: In many cases, the exact cause of AIHA is unknown, and it is

referred to as idiopathic autoimmune hemolytic anemia.

2. Underlying conditions: AIHA can be associated with other autoimmune

diseases, such as systemic lupus erythematosus (SLE), rheumatoid arthritis,
or certain infections and cancers.

3. Medications: Certain drugs, such as penicillin, methyldopa, or some anti-

cancer drugs, can trigger AIHA in susceptible individuals.
The symptoms of AIHA can vary but commonly include:

1. Fatigue and weakness: Due to a decreased number of functional red blood

cells carrying oxygen.

2. Pale skin and jaundice: Resulting from the breakdown of red blood cells
and increased bilirubin levels.

3. Shortness of breath: As a consequence of decreased oxygen-carrying

capacity in the blood.

4. Rapid or irregular heartbeat: A compensatory response to anemia.

3. Anemia of chronic disease. Clinical presentation. Investigations.

Anemia of chronic disease (ACD) is a type of anemia commonly associated

with chronic inflammatory or infectious conditions. Here's a brief overview of
its clinical presentation and investigations:

Clinical presentation of ACD:

1. Mild to moderate anemia: ACD typically leads to a mild to moderate

decrease in red blood cell counts.

2. Fatigue and weakness: Similar to other types of anemia, individuals with

ACD may experience symptoms of fatigue, weakness, and decreased energy
levels.

3. Other underlying symptoms: The clinical presentation may vary depending

on the underlying chronic condition causing ACD. This can include symptoms
associated with the primary disease, such as joint pain in rheumatoid arthritis
or recurrent infections in chronic infections.

Investigations for ACD:

1. Complete blood count (CBC): A CBC can reveal a decreased hemoglobin

level and red blood cell count, indicating anemia. Additionally, other red
blood cell parameters, such as mean corpuscular volume (MCV) and mean
corpuscular hemoglobin (MCH), may be within the normal range or slightly
reduced.
2. Iron studies: Iron levels may be normal or increased, but the iron is often
sequestered within cells and not readily available for red blood cell
production.

3. Inflammatory markers: Blood tests like C-reactive protein (CRP) and

erythrocyte sedimentation rate (ESR) can provide insights into the level of
inflammation in the body, which is often elevated in ACD.

4. Additional investigations: Depending on the suspected underlying cause,

further tests may be conducted to diagnose or monitor the chronic condition
contributing to ACD.

4. Hemophilia A. Etiology. Pathogenesis. Symptoms.

Hemophilia A is a genetic bleeding disorder caused by a deficiency or

dysfunction of clotting factor VIII. Here's a brief summary of its etiology,
pathogenesis, and symptoms:

Etiology of Hemophilia A:

Hemophilia A is primarily caused by a mutation in the gene responsible for

producing clotting factor VIII. This mutation leads to reduced or
dysfunctional factor VIII, impairing the blood's ability to clot effectively.

Pathogenesis of Hemophilia A:

The deficiency or dysfunction of factor VIII affects the intrinsic pathway of

blood clotting, resulting in prolonged bleeding times. This means that
individuals with hemophilia A are more prone to spontaneous bleeding or
excessive bleeding following injuries or surgeries.

Symptoms of Hemophilia A:

Common symptoms of hemophilia A include:

1. Excessive bleeding: Prolonged or spontaneous bleeding episodes, often

involving joints, muscles, or internal organs. This can result in pain, swelling,
and limited mobility.

2. Easy bruising: Individuals with hemophilia A may bruise easily due to blood
vessels being more prone to rupture.

3. Bleeding into the joints: Repeated bleeding into joints can lead to joint
damage and chronic pain.

4. Excessive bleeding after dental or surgical procedures: Procedures that

involve injury to blood vessels can result in prolonged bleeding.

5. Aplastic anemia. Causes. Clinical presentation.

Aplastic anemia is a rare condition characterized by the failure of the bone

marrow to produce enough red blood cells, white blood cells, and platelets.
Here's a brief summary of its causes and clinical presentation:

Causes of Aplastic Anemia:

1. Idiopathic: In many cases, the cause of aplastic anemia is unknown, and it

is referred to as idiopathic aplastic anemia.

2. Autoimmune disorders: The immune system mistakenly attacks the bone

marrow, impairing its ability to produce blood cells.

3. Exposure to toxins: Certain chemicals, drugs (such as chemotherapy or

certain antibiotics), and radiation can damage the bone marrow.

4. Inherited conditions: Rare genetic disorders can lead to aplastic anemia.

Clinical Presentation of Aplastic Anemia:

1. Fatigue and weakness: Due to decreased red blood cell production and
subsequent anemia.

2. Frequent infections: Due to reduced white blood cell counts, making

individuals more susceptible to infections.

3. Easy bruising and bleeding: Decreased platelet counts can lead to easy
bruising, prolonged bleeding, and frequent nosebleeds.

4. Pallor and shortness of breath: Anemia can cause pale skin and shortness
of breath upon exertion.
 6. Burkitt lymphoma. Etiology. Clinical forms.

Burkitt lymphoma is a fast-growing type of non-Hodgkin lymphoma, primarily

affecting B-cells. Here's a brief summary of its etiology and clinical forms:

Etiology of Burkitt Lymphoma:

Burkitt lymphoma is strongly associated with the Epstein-Barr virus (EBV)

infection, particularly in endemic areas such as certain regions of Africa. EBV
infection contributes to the development of genetic abnormalities that
promote the rapid growth of lymphocytes.

Clinical Forms of Burkitt Lymphoma:

1. Endemic Burkitt lymphoma: Most commonly seen in Africa, particularly in

children and young adults. It often involves the jaw and facial bones, but it
can affect other organs as well.

2. Sporadic Burkitt lymphoma: Occurs worldwide and typically affects

children and adults. It commonly involves the abdomen, lymph nodes, bone
marrow, and central nervous system (CNS).

3. Immunodeficiency-associated Burkitt lymphoma: This form is observed in

individuals with weakened immune systems, such as those with HIV/AIDS or
after organ transplantation. It can involve various sites in the

7. Bernard-Soulier syndrome. Etiology. Pathogenesis.

Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder

characterized by a deficiency or dysfunction of platelets. Here's a brief
overview of its etiology and pathogenesis:

Etiology of Bernard-Soulier Syndrome:

BSS is typically caused by mutations in genes that are involved in the

production or function of a specific platelet protein called glycoprotein Ib-IX-
V complex (GPIb-IX-V). The genetic mutations inherited from parents lead to
abnormalities in the structure or function of this complex, impairing platelet
adhesion and aggregation.
Pathogenesis of Bernard-Soulier Syndrome:

The deficiency or dysfunction of GPIb-IX-V complex in BSS affects the initial

step of platelet adhesion to damaged blood vessels. Normally, this complex
helps platelets adhere to the blood vessel wall and initiate clot formation. In
BSS, the impaired platelet adhesion results in prolonged bleeding times and
a tendency for excessive bleeding.

Symptoms of Bernard-Soulier Syndrome:

1. Easy bruising: Individuals with BSS may bruise easily due to fragile blood
vessels.

2. Prolonged bleeding: Even minor cuts or injuries can result in prolonged

bleeding episodes.

3. Excessive bleeding from mucous membranes: Bleeding from the nose or

gums may occur spontaneously or with minor trauma.

4. Heavy or prolonged menstrual bleeding (in females): Women with BSS

may experience heavy menstrual periods.

8. Alpha thalassemia. Symptoms. Pathogenesis.

Alpha thalassemia is a genetic blood disorder characterized by reduced or

absent production of alpha globin chains, which are essential components of
hemoglobin. Here's a brief summary of its symptoms and pathogenesis:

Symptoms of Alpha Thalassemia:

The severity of symptoms in alpha thalassemia can vary depending on the

number of affected alpha globin genes. The main types of alpha thalassemia
and their associated symptoms include:

1. Silent carrier: Typically asymptomatic with no significant health concerns.

2. Alpha thalassemia trait/minor: Mild anemia may be present, but individuals

usually lead normal lives without requiring treatment.

3. Hemoglobin H disease: Moderate to severe anemia, enlargement of the

spleen, and varying symptoms related to anemia such as fatigue and pale
skin.

4. Alpha thalassemia major (hydrops fetalis): Severe anemia starting before

birth, leading to hydrops fetalis, a condition characterized by severe fluid
accumulation in the body, heart failure, and other life-threatening
complications.

Pathogenesis of Alpha Thalassemia:

The pathogenesis of alpha thalassemia involves gene mutations that result in

reduced or absent production of alpha globin chains. These mutations affect
the normal synthesis of hemoglobin, leading to an imbalance in globin chain
production. This imbalance disrupts the formation and function of red blood
cells, leading to various degrees of anemia and related symptoms.

9. Hereditary spherocytosis. Clinical presentation. Investigations.

Hereditary spherocytosis is a genetic disorder characterized by abnormal red

blood cells that have a spherical shape, leading to hemolysis (premature
destruction of red blood cells). Here's a brief overview of its clinical
presentation and investigations:

Clinical Presentation of Hereditary Spherocytosis:

1. Anemia: Individuals with hereditary spherocytosis often have varying

degrees of anemia due to the increased destruction of red blood cells.

2. Jaundice: The excessive breakdown of red blood cells results in an

elevated level of bilirubin, leading to yellowing of the skin and eyes
(jaundice).

3. Splenomegaly: The spleen may become enlarged as it works to filter and

remove the abnormal red blood cells.

4. Fatigue and weakness: Anemia can cause fatigue, weakness, and reduced
stamina.

Investigations for Hereditary Spherocytosis:

1. Blood tests: A complete blood count (CBC) can reveal anemia, increased
reticulocyte count (indicating increased red blood cell production), and
elevated levels of bilirubin.

2. Peripheral blood smear: Examination of a blood smear under a microscope

can reveal the presence of spherocytes (abnormally shaped red blood cells).

3. Osmotic fragility test: This test measures the vulnerability of red blood
cells to rupture when exposed to a solution of varying osmolarity. Individuals
with hereditary spherocytosis tend to have increased osmotic fragility.

4. Genetic testing: Genetic analysis can identify specific gene mutations

associated with hereditary spherocytosis.

10. Iron deficiency anemia. Symptoms. Treatment.

Iron deficiency anemia is a condition characterized by low levels of red blood

cells due to insufficient iron in the body. Here's a brief overview of its
symptoms and treatment:

Symptoms of Iron Deficiency Anemia:

1. Fatigue and weakness: Due to a decreased oxygen-carrying capacity of

the blood.

2. Pale skin: Reduced red blood cell production can lead to a paler
complexion.

3. Shortness of breath: Insufficient oxygen supply to the body's tissues may

result in breathlessness, especially during physical exertion.

4. Brittle nails and hair: Inadequate iron affects the health of nails and hair.

Treatment of Iron Deficiency Anemia:

1. Iron supplementation: Iron supplements, typically in the form of ferrous

sulfate or ferrous fumarate, are commonly prescribed to replenish iron
stores. They should be taken as directed by a healthcare professional.

2. Dietary changes: Consuming iron-rich foods, such as red meat, dark leafy
greens, beans, and fortified cereals, can help increase iron intake.

3. Vitamin C supplementation: Consuming vitamin C along with iron-rich

foods or supplements can enhance iron absorption.

4. Blood transfusion: In severe cases, when immediate improvement is

necessary, a blood transfusion may be required.

5. Treating the underlying cause: Addressing any underlying causes of iron

deficiency, such as treating gastrointestinal bleeding or managing heavy
menstrual bleeding, is essential for long-term management.

11. Alpha thalassemia. Etiology. Treatment.

Alpha thalassemia is a genetic blood disorder characterized by reduced or

absent production of alpha globin chains, which are essential components of
hemoglobin. Here's a brief summary of its etiology and treatment:

Etiology of Alpha Thalassemia:

Alpha thalassemia is primarily caused by genetic mutations in the alpha

globin genes. The severity of the condition depends on the number of
affected genes. Deletions or mutations in one or more of the four alpha
globin genes can result in different forms of alpha thalassemia.

Treatment of Alpha Thalassemia:

The treatment for alpha thalassemia depends on the severity and symptoms
experienced by the individual. Treatment options may include:

1. Supportive care: This includes measures to manage symptoms such as

blood transfusions to alleviate anemia and folic acid supplements to support
red blood cell production.

2. Hematopoietic stem cell transplantation (HSCT): For severe cases, HSCT

may be considered as a potential curative option. It involves replacing the
faulty bone marrow cells with healthy donor cells.

3. Genetic counseling: Genetic counseling is recommended for individuals

and families affected by alpha thalassemia to provide information about the
inheritance pattern and to discuss family planning options.

12. Aplastic anemia. Diagnosis. Treatment.

Aplastic anemia is a rare condition characterized by the failure of the bone
marrow to produce enough red blood cells, white blood cells, and platelets.
Diagnosis involves blood tests and a bone marrow biopsy. Treatment options
include supportive care, immunosuppressive therapy, hematopoietic stem
cell transplant, and experimental therapies.

Diagnosis of Aplastic Anemia:

1. Blood tests: A complete blood count (CBC) can reveal low red blood cell,
white blood cell, and platelet counts. The blood may also show abnormalities
in the size and shape of the cells.

2. Bone marrow biopsy: A sample of bone marrow is taken and examined to

assess cellularity and determine the presence of any abnormal cells or
fibrosis.

3. Additional tests: Other tests may be conducted to identify potential

underlying causes, such as immunological studies, cytogenetic analysis, and
tests for viral infections.

Treatment of Aplastic Anemia:

1. Supportive care: Treatment may involve regular blood transfusions to

manage anemia and platelet transfusions or medications to control bleeding.
Antibiotics and antifungal medications may be given to prevent or treat
infections.

2. Immunosuppressive therapy: This treatment involves medications that

suppress the immune system, such as anti-thymocyte globulin (ATG) and
cyclosporine. It aims to suppress the immune response that is attacking the
bone marrow.

3. Hematopoietic stem cell transplant (HSCT): In some cases, a stem cell

transplant from a compatible donor may be recommended, particularly for
younger patients and those with a suitable donor.

4. Experimental therapies: For individuals who do not respond to standard

treatments, clinical trials of new therapies or experimental approaches may
be considered.

13. Follcular lymphoma. Clinical presentation. Investigations.

Follicular lymphoma is a type of non-Hodgkin lymphoma characterized by
the abnormal growth of B-cells in the lymphatic system. Here's a brief
summary of its clinical presentation and investigations:

Clinical Presentation of Follicular Lymphoma:

1. Enlarged lymph nodes: The most common presenting symptom is painless

swelling of lymph nodes, typically in the neck, armpits, or groin.

2. B symptoms: Some individuals may experience B symptoms, including

fever, night sweats, and unexplained weight loss.

3. Fatigue: Patients may feel persistent tiredness and lack of energy.

4. Abdominal discomfort: In some cases, follicular lymphoma may cause

abdominal pain or bloating due to enlarged lymph nodes in the abdomen.

Investigations for Follicular Lymphoma:

1. Biopsy: A biopsy of an enlarged lymph node is performed to confirm the

diagnosis and determine the type and grade of lymphoma.

2. Imaging tests: Imaging techniques such as computed tomography (CT)

scan or positron emission tomography (PET) scan may be used to evaluate
the extent of the disease and identify affected lymph nodes or organs.

3. Blood tests: Blood tests may be conducted to assess overall health,

including a complete blood count (CBC), blood chemistry tests, and tests for
specific markers related to lymphoma.

4. Bone marrow biopsy: Bone marrow samples may be taken to determine if

the lymphoma has spread to the bone marrow.

Once the diagnosis is confirmed, further staging and evaluation are done to
determine the extent of the disease. The treatment approach for follicular
lymphoma may involve watchful waiting, radiation therapy, chemotherapy,
immunotherapy, or a combination of these treatments, depending on the
stage and characteristics of the disease.

14. Alpha thalassemia. Hemoglobin Bart disease. Symptoms.

Hemoglobin Bart disease is the most severe form of alpha thalassemia,
resulting from the complete absence of functional alpha globin chains.
Here's a brief summary of its symptoms:

Symptoms of Hemoglobin Bart Disease:

1. Severe fetal anemia: Hemoglobin Bart disease typically presents during

fetal development and causes severe anemia in affected infants.

2. Hydrops fetalis: The condition often leads to the accumulation of fluid in

the body, a condition known as hydrops fetalis. This can result in severe
edema and can be life-threatening.

3. Abnormal facial features: Infants with Hemoglobin Bart disease may exhibit
distinct facial features such as a flattened bridge of the nose, a prominent
forehead, and an enlarged liver and spleen.

4. Growth and developmental delays: Due to the severe anemia and

associated complications, affected infants may experience delays in growth
and development.

15. Hereditary spherocytosis. Diagnosis. Treatment.

Hereditary spherocytosis is a genetic disorder characterized by the presence

of abnormally shaped red blood cells, known as spherocytes. These cells are
more fragile and have a shorter lifespan, leading to anemia. Here are some
key points about hereditary spherocytosis:

- Inheritance: Hereditary spherocytosis is usually inherited in an autosomal

dominant pattern, which means an affected individual has a 50% chance of
passing the condition to their children.

- Clinical Presentation: Symptoms can range from mild to severe and may
include anemia, fatigue, jaundice (yellowing of the skin and eyes), and an
enlarged spleen.

- Diagnosis: Diagnosis is typically based on clinical evaluation, blood tests

(such as a complete blood count and peripheral blood smear), and specific
tests to assess red blood cell fragility.
- Treatment: Treatment for hereditary spherocytosis aims to manage
symptoms and prevent complications. This may involve folic acid
supplementation, blood transfusions in severe cases, and, in some cases,
surgical removal of the spleen (splenectomy) to reduce red blood cell
destruction.

- Monitoring: Regular monitoring of hemoglobin levels, red blood cell count,

and bilirubin levels is important to assess the severity of anemia and
determine the need for interventions.

16. Alpha thalassemia. Etiology. Treatment.

Alpha thalassemia is a genetic disorder characterized by reduced or absent

production of alpha globin chains, which are essential components of
hemoglobin. Here's a brief summary of its etiology and treatment:

Etiology of Alpha Thalassemia:

Alpha thalassemia is primarily caused by genetic mutations in the alpha

globin genes. The severity of the condition depends on the number of
affected genes. Deletions or mutations in one or more of the four alpha
globin genes can result in different forms of alpha thalassemia.

Treatment of Alpha Thalassemia:

The treatment for alpha thalassemia depends on the severity and symptoms
experienced by the individual. Treatment options may include:

1. Supportive care: This includes measures to manage symptoms such as

blood transfusions to alleviate anemia and folic acid supplements to support
red blood cell production.

2. Hematopoietic stem cell transplantation (HSCT): For severe cases, HSCT

may be considered as a potential curative option. It involves replacing the
faulty bone marrow cells with healthy donor cells.

3. Genetic counseling: Genetic counseling is recommended for individuals

and families affected by alpha thalassemia to provide information about the
inheritance pattern and to discuss family planning options.
 17. Beta thalassemia. Etiology. Pathogenesis.

Beta thalassemia is a genetic disorder characterized by reduced or absent

production of beta globin chains, which are essential components of
hemoglobin. Here's a brief summary of its etiology and pathogenesis:

Etiology of Beta Thalassemia:

Beta thalassemia is primarily caused by mutations in the HBB gene that

provides instructions for producing beta globin chains. These mutations
disrupt the normal production of beta globin, leading to an imbalance of
alpha and beta chains in hemoglobin.

Pathogenesis of Beta Thalassemia:

The reduced or absent production of beta globin chains results in an

imbalance with excess alpha globin chains. These excess alpha chains form
unstable aggregates that damage red blood cells, leading to their premature
destruction. This process is known as ineffective erythropoiesis and leads to
chronic anemia.

The severity of beta thalassemia can vary depending on the specific

mutation involved and the amount of beta globin produced. Beta thalassemia
major refers to a severe form with a complete absence of beta globin
production, while beta thalassemia minor or trait refers to a milder form with
reduced beta globin production.

18. Hemophilia B. Etiology. Pathogenesis. Symptoms.

Hemophilia B, also known as Christmas disease, is a genetic bleeding

disorder caused by a deficiency of clotting factor IX. Here's a brief summary
of its etiology, pathogenesis, and symptoms:

Etiology of Hemophilia B:

Hemophilia B is an X-linked recessive disorder caused by mutations in the

gene that provides instructions for producing clotting factor IX. The gene
mutation affects the production or function of factor IX, leading to its
deficiency or dysfunction.
Pathogenesis of Hemophilia B:

The deficiency or dysfunction of clotting factor IX impairs the blood's ability

to form clots properly. Factor IX is crucial for the formation of a stable blood
clot by activating other clotting factors in a cascade. Without sufficient
factor IX, blood clotting is impaired, resulting in prolonged bleeding and
difficulty in controlling bleeding episodes.

Symptoms of Hemophilia B:

Common symptoms of hemophilia B include:

1. Excessive bleeding: Individuals with hemophilia B may experience

prolonged bleeding after injuries, surgeries, or dental procedures. Even
minor cuts or injuries can lead to significant bleeding.

2. Spontaneous bleeding: Bleeding can occur without an apparent cause and

may manifest as joint or muscle bleeds, resulting in pain, swelling, and limited
mobility.

3. Easy bruising: Easy bruising may occur due to blood vessels being more
susceptible to rupture.

19. G6PD deficiency anemia. Clinical presentation. Investigations.

G6PD (glucose-6-phosphate dehydrogenase) deficiency is a genetic

disorder that affects the activity of the G6PD enzyme, which plays a vital role
in protecting red blood cells from oxidative damage. Here's a brief summary
of its clinical presentation and investigations:

Clinical Presentation of G6PD Deficiency Anemia:

1. Hemolytic anemia: G6PD deficiency can lead to episodes of hemolytic

anemia, which occur when red blood cells break down prematurely. These
episodes can be triggered by certain medications, infections, or exposure to
certain foods or chemicals.

2. Jaundice: Hemolysis of red blood cells can cause an accumulation of

bilirubin, leading to jaundice, which is characterized by yellowing of the skin
and eyes.
3. Dark urine: Hemoglobin released during red blood cell breakdown can be
excreted in the urine, giving it a dark or tea-colored appearance.

4. Fatigue and shortness of breath: Anemia resulting from the destruction of

red blood cells can lead to symptoms such as fatigue, weakness, and
shortness of breath.

Investigations for G6PD Deficiency Anemia:

1. G6PD enzyme assay: This blood test measures the activity level of the
G6PD enzyme to determine if a deficiency is present.

2. Genetic testing: Genetic analysis can identify specific mutations in the

G6PD gene, confirming the diagnosis and determining the specific variant of
G6PD deficiency.

3. Blood tests: Complete blood count (CBC) may reveal features of

hemolysis, including low hemoglobin levels, increased reticulocyte count
(immature red blood cells), and elevated bilirubin levels.

20. Beta thalassemia. Symptoms. Treatment.

Beta thalassemia is a genetic disorder characterized by reduced or absent

production of beta globin chains, resulting in anemia. Here's a brief summary
of its symptoms and treatment:

Symptoms of Beta Thalassemia:

1. Anemia: The hallmark symptom of beta thalassemia is anemia, which can

range from mild to severe. Anemia can lead to fatigue, weakness, and pale
skin.

2. Growth and developmental issues: Severe forms of beta thalassemia can

cause delayed growth and development in children due to chronic anemia
and reduced oxygen-carrying capacity of the blood.

3. Enlarged organs: Chronic anemia can lead to an overstimulation of the

bone marrow, causing the enlargement of organs such as the spleen and
liver.

4. Bone deformities: Severe forms of beta thalassemia, such as thalassemia

major, can cause bone deformities and facial changes due to excessive red
blood cell production in the bone marrow.

Treatment of Beta Thalassemia:

The treatment approach for beta thalassemia depends on the severity of the
condition. Treatment options include:

1. Blood transfusions: Regular blood transfusions help to alleviate anemia and

provide healthy red blood cells. However, this can lead to iron overload over
time, requiring additional treatment.

2. Iron chelation therapy: Iron chelation medications are used to remove

excess iron from the body, preventing iron overload and associated
complications.

3. Folic acid supplementation: Folic acid is often prescribed to support red

blood cell production.

4. Bone marrow transplant: For eligible individuals, a bone marrow transplant

from a compatible donor may be considered as a potentially curative
treatment.

21. Lead poisoning. Etiology. Pathogenesis.

Lead poisoning occurs when there is an accumulation of lead in the body,

leading to toxicity. Here's a brief summary of its etiology and pathogenesis:

Etiology of Lead Poisoning:

Lead poisoning typically occurs through exposure to lead-containing

substances. Common sources of lead exposure include lead-based paints,
contaminated water, lead-glazed ceramics, leaded gasoline, and certain
occupational environments.

Pathogenesis of Lead Poisoning:

1. Absorption: Lead can enter the body through ingestion, inhalation, or, to a
lesser extent, dermal exposure. Children are particularly susceptible to lead
absorption due to their hand-to-mouth behavior.

2. Distribution: Once absorbed, lead can distribute throughout the body,

including the blood, soft tissues, bones, and organs.

3. Interference with biological processes: Lead interferes with various

biological processes by displacing essential metals like calcium, affecting
enzymes, and disrupting normal cellular functions.

4. Toxic effects: Lead toxicity primarily affects the central nervous system,
causing neurologic symptoms such as cognitive impairment, developmental
delays in children, behavioral changes, and peripheral neuropathy. It can also
affect other systems, including the hematopoietic, renal, and gastrointestinal
systems.

22. G6PD deficiency. Diagnosis. Treatment.

Diagnosis and treatment of G6PD (glucose-6-phosphate dehydrogenase)

deficiency, a genetic disorder affecting red blood cells, can be summarized
as follows:

Diagnosis of G6PD Deficiency:

1. History and physical examination: A healthcare professional will assess the

individual's medical history, symptoms, and family history of G6PD
deficiency.

2. Enzyme assay: A blood test is performed to measure the activity of the

G6PD enzyme. It is important to note that the enzyme assay may not be
accurate during or immediately after an acute hemolytic episode. Thus,
repeating the test after recovery is often recommended.

Treatment of G6PD Deficiency:

1. Avoidance of triggers: Individuals with G6PD deficiency should avoid

certain medications, foods, and chemicals that can trigger a hemolytic
episode. Common triggers include certain antibiotics, antimalarial drugs, fava
beans, and oxidative substances.

2. Supportive care: During an acute hemolytic episode, supportive care may

be needed to manage symptoms. This includes rest, hydration, and
treatment of any complications that arise, such as anemia or jaundice.

3. Genetic counseling: Genetic counseling is recommended for individuals

with G6PD deficiency and their families to discuss inheritance patterns and
provide information on family planning options.

23. Lead poisoning. Symptoms. Treatment.

Symptoms of Lead Poisoning:

1. Neurological symptoms: Lead poisoning can cause cognitive impairment,

learning difficulties, behavioral changes, irritability, seizures, and in severe
cases, coma.

2. Gastrointestinal symptoms: Abdominal pain, vomiting, constipation, and

loss of appetite may occur.

3. Anemia: Lead can interfere with the production of red blood cells, leading
to anemia. Symptoms may include fatigue, weakness, and pale skin.

4. Renal symptoms: Lead poisoning can damage the kidneys, resulting in

impaired kidney function and increased blood pressure.

Treatment of Lead Poisoning:

1. Removal of lead source: Identifying and removing the source of lead

exposure is the first step in treatment. This may involve addressing lead-
based paint, contaminated water, or other sources of lead.

2. Chelation therapy: In cases of moderate to severe lead poisoning,

chelation therapy may be used. Chelating agents, such as EDTA or succimer,
are administered orally or intravenously to bind to lead in the bloodstream
and enhance its excretion from the body.

3. Supportive care: Supportive measures are provided to manage symptoms

and complications. This may include addressing anemia with iron
supplements or blood transfusions, managing gastrointestinal symptoms,
and monitoring and treating any neurological or renal complications.

24. Sideroblastic anemia. Etiology. Pathogenesis.

Sideroblastic anemia is a group of disorders characterized by impaired
production of healthy red blood cells due to abnormalities in iron metabolism.
Here's a brief summary of its etiology and pathogenesis:

Etiology of Sideroblastic Anemia:

1. Genetic: Some forms of sideroblastic anemia are inherited and caused by

mutations in specific genes involved in heme synthesis, such as ALAS2 and
SLC25A38.

2. Acquired: Sideroblastic anemia can also be acquired due to factors such

as certain medications (e.g., isoniazid), alcohol abuse, lead toxicity, vitamin
B6 deficiency, myelodysplastic syndromes (MDS), or other underlying
conditions.

Pathogenesis of Sideroblastic Anemia:

1. Impaired heme synthesis: Sideroblastic anemia is characterized by defects

in heme synthesis within the red blood cell precursors. This results in
abnormal iron accumulation in the mitochondria of erythroid cells, forming
ringed sideroblasts.

2. Mitochondrial dysfunction: The impairment in heme synthesis can be

attributed to mitochondrial dysfunction, leading to inadequate utilization of
iron and impaired incorporation of iron into heme molecules.

3. Iron overload: Despite the presence of excess iron within the mitochondria,
the iron is not effectively utilized for hemoglobin production, leading to
reduced red blood cell production. As a result, iron accumulates in other
tissues, causing systemic iron overload.

25. Pyruvate kinase deficiency anemia. Clinical presentation.

Investigations.

Pyruvate kinase deficiency (PKD) is a rare genetic disorder that affects red
blood cells, leading to hemolytic anemia. Here's a brief summary of its
clinical presentation and investigations:

Clinical Presentation of Pyruvate Kinase Deficiency Anemia:

1. Hemolytic anemia: PKD results in the premature destruction of red blood
cells (hemolysis), leading to anemia. The severity of anemia can vary, ranging
from mild to severe, and may present with symptoms such as fatigue,
weakness, and pallor.

2. Jaundice: Hemolysis of red blood cells can lead to an accumulation of

bilirubin, causing yellowing of the skin and eyes (jaundice).

3. Enlarged spleen: Chronic hemolysis can cause the spleen to enlarge

(splenomegaly) as it tries to remove damaged red blood cells from
circulation.

Investigations for Pyruvate Kinase Deficiency Anemia:

1. Complete blood count (CBC): A CBC may reveal features of hemolysis,

including a low hemoglobin level, increased reticulocyte count (immature red
blood cells), and elevated bilirubin levels.

2. Peripheral blood smear: Examination of a peripheral blood smear can show

characteristic changes in red blood cells, such as anisocytosis (varying cell
size) and poikilocytosis (abnormal cell shape).

3. Pyruvate kinase enzyme assay: Measurement of pyruvate kinase enzyme

activity in red blood cells can confirm the diagnosis of PKD.

26. Sideroblastic anemia. Symptoms. Treatment.

Sideroblastic anemia is a group of rare blood disorders characterized by

defective iron utilization in the production of hemoglobin, resulting in the
accumulation of iron within the red blood cell precursors. Here are some key
points about sideroblastic anemia:

2. Clinical Features: The clinical presentation can vary, but common

symptoms include fatigue, weakness, pale skin, shortness of breath, and
sometimes enlargement of the liver or spleen.

3. Diagnosis: Diagnosis involves a combination of clinical evaluation, blood

tests (such as complete blood count and iron studies),
4. Treatment: The treatment of sideroblastic anemia depends on the
underlying cause and severity of symptoms. It may involve addressing any
reversible factors or triggers, such as discontinuing medications or reducing
alcohol consumption. In some cases, iron chelation therapy may be needed
to remove excess iron. Transfusions and supportive care may be necessary
for severe anemia.

27. Ferritin and transferrin changes in anemia.

In anemia, the levels of ferritin and transferrin, two important iron-related

proteins, can exhibit certain changes. Here's a brief explanation:

1. Ferritin: Ferritin is a protein that stores iron in cells. In anemia, particularly

iron deficiency anemia, the levels of ferritin are typically decreased. This
reduction in ferritin indicates a depletion of iron stores in the body, as ferritin
acts as an indicator of iron storage levels.

2. Transferrin: Transferrin is a protein responsible for transporting iron in the

blood. In anemia, particularly iron deficiency anemia, the levels of transferrin
may be increased. The elevation of transferrin is the body's response to the
decreased iron availability, as it tries to transport more iron to meet the
demands of red blood cell production.

These changes in ferritin and transferrin levels are not specific to all types of
anemia but are commonly observed in iron deficiency anemia. Other types of
anemia may have different patterns of ferritin and transferrin levels
depending on their underlying causes and mechanisms.

28. Megaloblastic anemia. Etiology. Pathogenesis.

Megaloblastic anemia is a type of anemia characterized by the presence of

large, immature red blood cells (megaloblasts) in the bone marrow. Here's a
brief overview of its etiology and pathogenesis:

Etiology of Megaloblastic Anemia:

1. Vitamin B12 deficiency: One of the most common causes of megaloblastic

anemia is a deficiency of vitamin B12 (cobalamin), which is necessary for the
normal synthesis of DNA.
2. Folate deficiency: Inadequate intake or absorption of folate (vitamin B9)
can also lead to megaloblastic anemia. Folate is essential for DNA synthesis
and cell division.

Pathogenesis of Megaloblastic Anemia:

1. Impaired DNA synthesis: Vitamin B12 and folate deficiencies disrupt DNA
synthesis, affecting the normal maturation of red blood cells. This leads to
the production of larger, immature cells called megaloblasts.

2. Delayed nuclear maturation: The impaired DNA synthesis results in

delayed maturation of the nucleus, while other cellular components continue
to grow and accumulate, leading to enlarged red blood cells.

3. Ineffective erythropoiesis: The abnormal red blood cell maturation and

increased destruction of megaloblasts in the bone marrow result in
ineffective erythropoiesis, leading to anemia.

The underlying causes of megaloblastic anemia can vary. Vitamin B12

deficiency commonly arises from inadequate dietary intake, impaired
absorption (e.g., pernicious anemia), or malabsorption syndromes. Folate
deficiency can occur due to poor dietary intake, malabsorption, alcoholism,
or increased demand during pregnancy or certain medical conditions.

Treatment of megaloblastic anemia typically involves addressing the

underlying deficiency. Vitamin B12 supplementation or intramuscular
injections are used for B12 deficiency, while folate supplementation is
employed for folate deficiency. Identifying and treating the cause of the
deficiency is also essential for long-term management.

29. Hemophilia C. Etiology. Pathogenesis. Symptoms.

Hemophilia C, also known as factor XI deficiency, is a rare inherited bleeding

disorder. Here's a brief overview of its etiology, pathogenesis, and
symptoms:

Etiology of Hemophilia C:

Hemophilia C is caused by a deficiency or dysfunction of clotting factor XI,

which is involved in the blood clotting cascade. It is usually inherited in an
autosomal recessive pattern, meaning both copies of the gene must be
affected for the condition to manifest.

Pathogenesis of Hemophilia C:

The deficiency or dysfunction of clotting factor XI impairs the normal blood

clotting process. Factor XI plays a role in the intrinsic pathway of the clotting
cascade, which is responsible for the formation of a stable blood clot. The
reduced levels or impaired function of factor XI can result in delayed clot
formation and an increased tendency for bleeding.

Symptoms of Hemophilia C:

1. Mild to moderate bleeding: Individuals with hemophilia C may experience

mild to moderate bleeding, primarily after trauma or surgical procedures.
This can manifest as prolonged bleeding from cuts or wounds, nosebleeds,
or bleeding after dental work.

2. Menstrual difficulties: Women with hemophilia C may have heavier or

prolonged menstrual bleeding.

3. Rare spontaneous bleeding: Unlike severe forms of hemophilia,

spontaneous bleeding into joints or muscles is rare in hemophilia C.

30. Pyruvate kinase deficiency anemia. Diagnosis. Treatment.

Pyruvate kinase is an enzyme involved in glycolysis, a metabolic pathway

that produces energy in the form of ATP. Pyruvate kinase deficiency is an
inherited disorder characterized by reduced or absent activity of this
enzyme. Here are some key points about pyruvate kinase

4. Diagnosis: Diagnosis of pyruvate kinase deficiency involves a combination

of clinical evaluation, laboratory tests (such as complete blood count,
peripheral blood smear, and pyruvate kinase enzyme assay), and genetic
testing to identify mutations in the PKLR gene.

5. Treatment: Treatment of pyruvate kinase deficiency aims to manage

symptoms and prevent complications. This may include supportive measures
such as folic acid supplementation to support red blood cell production,
blood transfusions to address anemia, splenectomy (removal of the spleen)
in severe cases, and management of complications like gallstones.

31. Hairy cell leukemia. Etiology. Pathogenesis.

Hairy cell leukemia is a rare type of cancer that affects the white blood cells,
specifically B lymphocytes. Here's a brief overview of its etiology and
pathogenesis:

Etiology of Hairy Cell Leukemia:

The exact cause of hairy cell leukemia is unknown. It is not believed to be

directly linked to environmental factors or lifestyle choices. However, certain
risk factors have been identified, including:

1. Mutations: Mutations in genes, such as the BRAF gene, have been

associated with hairy cell leukemia. These genetic alterations contribute to
the development and progression of the disease.

2. Male gender: Hairy cell leukemia is more commonly diagnosed in males

than females.

3. Age: The condition typically affects middle-aged to older adults, with the
average age at diagnosis being around 55-60 years.

Pathogenesis of Hairy Cell Leukemia:

The pathogenesis of hairy cell leukemia involves the abnormal growth and
accumulation of malignant B lymphocytes in the bone marrow, spleen, and
other organs. Here are key points regarding the pathogenesis:

1. Clonal expansion: Hairy cell leukemia arises from a single abnormal B

lymphocyte that undergoes uncontrolled clonal expansion.

2. Bone marrow infiltration: The abnormal B cells infiltrate the bone marrow,
disrupting normal blood cell production. This leads to cytopenias (low blood
cell counts) and bone marrow failure.

3. Splenic involvement: Hairy cells have unique hair-like projections on their

surface, giving them their characteristic appearance. These cells tend to
accumulate in the spleen, leading to splenomegaly (enlarged spleen).
4. Cytopenias: As the hairy cells multiply and replace healthy blood cells in
the bone marrow, it can result in low red blood cell, white blood cell, and
platelet counts. This leads to symptoms such as fatigue, increased
susceptibility to infections, and easy bleeding or bruising.

32. Megaloblastic anemia. Symptoms. Treatment.

Megaloblastic anemia is a type of anemia characterized by the presence of

large, immature red blood cells (megaloblasts) in the bone marrow. Here's a
brief overview of its symptoms and treatment:

Symptoms of Megaloblastic Anemia:

1. Fatigue: Feeling tired or weak is a common symptom of megaloblastic

anemia due to the decreased number of healthy red blood cells carrying
oxygen to the body's tissues.

2. Shortness of breath: Reduced oxygen-carrying capacity of the blood can

lead to shortness of breath, particularly during physical activity.

3. Pale skin and mucous membranes: Anemia can cause paleness of the skin,
lips, and inside the lower eyelids.

4. Rapid heart rate: The heart may beat faster in an attempt to compensate
for the reduced oxygen supply to the body.

5. Weakness and lightheadedness: Decreased oxygen delivery to the

muscles and brain can result in feelings of weakness and lightheadedness.

Treatment of Megaloblastic Anemia:

1. Vitamin supplementation: Megaloblastic anemia is often caused by

deficiencies in vitamin B12 or folate. Treatment involves addressing the
underlying deficiency through oral or injectable vitamin B12 or folate
supplementation, depending on the specific deficiency.

2. Dietary modifications: In cases of megaloblastic anemia caused by dietary

deficiencies, increasing the intake of foods rich in vitamin B12 (such as meat,
fish, and dairy products) or folate (such as leafy green vegetables, beans,
and fortified grains) can help improve the condition.

3. Underlying condition management: If megaloblastic anemia is secondary

to an underlying condition, such as malabsorption or certain medications,
addressing and managing that condition is crucial for effective treatment.

33. Folate deficiency anemia. Etiology. Pathogenesis.

Folate deficiency anemia is a type of megaloblastic anemia caused by

inadequate levels of folate (vitamin B9) in the body. Here's a brief overview
of its etiology and pathogenesis:

Etiology of Folate Deficiency Anemia:

1. Inadequate dietary intake: Folate is obtained from certain foods, including

leafy green vegetables, fruits, beans, and fortified grains. Inadequate
consumption of these folate-rich foods can lead to deficiency.

2. Malabsorption: Conditions that affect the absorption of nutrients in the

gastrointestinal tract, such as celiac disease, inflammatory bowel disease, or
surgical removal of a part of the intestine, can contribute to folate deficiency.

3. Alcoholism: Excessive alcohol consumption can interfere with folate

absorption, increase folate excretion, and impair folate utilization, leading to
deficiency.

4. Increased demand: Certain conditions, such as pregnancy, lactation, and

certain cancers, may increase the body's demand for folate, potentially
leading to deficiency if dietary intake is insufficient.

Pathogenesis of Folate Deficiency Anemia:

Folate plays a crucial role in DNA synthesis and cell division, including the
production of red blood cells. When folate levels are low, the following
pathogenic mechanisms occur:

1. Impaired DNA synthesis: Folate deficiency leads to reduced availability of

folate coenzymes necessary for DNA synthesis. This results in impaired
synthesis and maturation of red blood cells in the bone marrow, leading to
the production of large, immature red blood cells (megaloblasts).
2. Increased cell turnover: Folate deficiency can also affect other rapidly
dividing cells, such as cells lining the gastrointestinal tract. This can
contribute to gastrointestinal symptoms and further exacerbate folate
deficiency.

The combination of impaired red blood cell production and increased cell
turnover leads to the characteristic features of megaloblastic anemia,
including large and immature red blood cells.

Treatment of Folate Deficiency Anemia:

The treatment of folate deficiency anemia involves addressing the underlying

cause and replenishing folate levels. It typically includes:

1. Folate supplementation: Oral administration of folic acid (synthetic form of

folate) is the mainstay of treatment. Folate supplements help restore folate
levels and support normal red blood cell production.

2. Dietary modifications: Encouraging a diet rich in folate-containing foods,

such as leafy green vegetables, fruits, beans, and fortified grains, is
important to maintain adequate folate levels.

3. Underlying condition management: If folate deficiency

34. Paroxismal nocturnal hemoglobinuria. Causes. Symptoms.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder

characterized by the destruction of red blood cells, leading to hemolytic
anemia. Here's a brief overview of its causes and symptoms:

Causes of Paroxysmal Nocturnal Hemoglobinuria:

PNH is caused by a mutation in the PIGA gene, which leads to a deficiency of

certain proteins on the surface of blood cells. These proteins are involved in
protecting red blood cells from the immune system's attack. The mutation
results in the production of abnormal red blood cells that are more
susceptible to destruction by the complement system, a part of the immune
system.

Symptoms of Paroxysmal Nocturnal Hemoglobinuria:

1. Hemolytic anemia: PNH is characterized by episodes of hemolysis, where
red blood cells are prematurely destroyed. This leads to anemia, resulting in
symptoms such as fatigue, weakness, and shortness of breath.

2. Hemoglobinuria: During episodes of hemolysis, the released hemoglobin

accumulates in the urine, causing it to appear dark or cola-colored. This is
known as hemoglobinuria.

3. Thrombosis: PNH increases the risk of blood clots (thrombosis) in veins

and arteries. This can lead to symptoms such as chest pain, abdominal pain,
shortness of breath, and stroke.

4. Bone marrow failure: In some cases, PNH can progress to bone marrow
failure, leading to a decrease in the production of red blood cells, white blood
cells, and platelets. This can result in recurrent infections, easy bruising or
bleeding, and an increased susceptibility to infections.

35. Folate deficiency anemia. Symptoms. Treatment.

Folate deficiency anemia is a type of anemia caused by a deficiency of folate,

a B-vitamin essential for red blood cell production. Here's a short summary:

Symptoms of Folate Deficiency Anemia:

1. Fatigue and weakness: Folate deficiency affects red blood cell production,
leading to decreased oxygen-carrying capacity and resulting in fatigue and
weakness.

2. Pale skin: Anemia can cause paleness of the skin, lips, and inside the lower
eyelids.

3. Shortness of breath: Reduced oxygen-carrying capacity of the blood can

lead to shortness of breath, particularly during physical activity.

4. Tongue and mouth changes: Folate deficiency may cause glossitis

(inflammation of the tongue) and mouth ulcers.

Treatment of Folate Deficiency Anemia:

1. Folate supplementation: The main treatment involves replenishing folate

levels through oral folic acid supplements. The recommended dosage
depends on the severity of deficiency and underlying cause.

2. Dietary modifications: Consuming folate-rich foods is important to

maintain adequate folate levels. This includes leafy green vegetables, fruits,
beans, fortified grains, and foods fortified with folic acid.

3. Addressing underlying causes: If folate deficiency is due to an underlying

condition, such as malabsorption or excessive alcohol consumption,
addressing and managing that condition is crucial to prevent further
deficiency.

36. Vitamin B12 deficiency anema. Symptoms. Treatment.

Vitamin B12 deficiency anemia is a type of anemia caused by insufficient

levels of vitamin B12 in the body. Here's a brief overview of its symptoms and
treatment:

Symptoms of Vitamin B12 Deficiency Anemia:

1. Fatigue and weakness: Decreased red blood cell production affects oxygen
delivery, leading to fatigue and weakness.

2. Pale skin: Anemia can cause paleness of the skin, lips, and inside the lower
eyelids.

3. Shortness of breath: Reduced oxygen-carrying capacity of the blood can

result in shortness of breath, particularly during physical exertion.

4. Neurological symptoms: Severe vitamin B12 deficiency can cause

neurological problems like tingling or numbness in the hands and feet,
balance difficulties, and memory problems.

Treatment of Vitamin B12 Deficiency Anemia:

1. Vitamin B12 supplementation: The main treatment involves replenishing

vitamin B12 levels through injections or high-dose oral supplements. The
route of administration depends on the severity of deficiency and the
underlying cause.
2. Dietary modifications: Consuming foods rich in vitamin B12 is important to
maintain adequate levels. This includes meat, fish, dairy products, and
fortified cereals.

3. Addressing underlying causes: If vitamin B12 deficiency is due to

conditions like pernicious anemia or malabsorption, addressing and
managing the underlying cause is crucial for long-term treatment.

37. Sickle cell anemia. Causes. Symptoms.

Sickle cell anemia is a genetic blood disorder characterized by abnormal

hemoglobin, the protein responsible for carrying oxygen in red blood cells.
Here's a brief overview of its causes and symptoms:

Causes of Sickle Cell Anemia:

Sickle cell anemia is caused by a mutation in the gene that instructs the
production of hemoglobin. This mutation leads to the production of abnormal
hemoglobin called hemoglobin S. Inheriting two copies of the mutated gene
(one from each parent) is necessary to develop sickle cell anemia.

Symptoms of Sickle Cell Anemia:

1. Pain crises: One of the hallmark symptoms of sickle cell anemia is

episodes of severe pain, known as pain crises. These episodes occur when
sickle-shaped red blood cells block blood flow, causing tissue damage and
pain in various parts of the body.

2. Anemia: Sickle cell anemia leads to chronic hemolytic anemia, where the
red blood cells are destroyed faster than they can be replaced. This results in
fatigue, weakness, and pale skin.

3. Swelling and inflammation: The blockage of blood vessels by sickled red

blood cells can cause swelling and inflammation in the hands, feet, and other
body parts.

4. Infections: People with sickle cell anemia have a higher risk of infections,
particularly bacterial infections such as pneumonia, urinary tract infections,
and bone infections.

5. Delayed growth and development: Sickle cell anemia can affect growth
and development in children due to chronic anemia and the impact of
repeated pain

38. Diffuse large B-cell lympho

Diffuse large B-cell lymphoma (DLBCL) is a common type of aggressive non-

Hodgkin lymphoma. Here's a short summary:

Diffuse Large B-cell Lymphoma (DLBCL):

1. Etiology: The exact cause of DLBCL is unknown. However, it can arise from
abnormal changes in B-cells, which are a type of white blood cell responsible
for producing antibodies.

2. Pathogenesis: DLBCL occurs when B-cells in the lymphatic system

undergo genetic mutations or abnormalities, leading to uncontrolled growth
and division. These abnormal B-cells form a diffuse pattern of large
lymphoma cells.

3. Clinical Presentation: The clinical presentation of DLBCL can vary, but

common symptoms may include enlarged lymph nodes, fever, night sweats,
weight loss, fatigue, and generalized symptoms of lymphoma.

4. Investigations: Diagnosis of DLBCL involves various investigations, such as

a physical examination, blood tests, imaging studies (e.g., CT scan), and a
biopsy of the affected lymph node or organ. Additional tests may be
conducted to determine the stage and extent of the disease.

Treatment of DLBCL:

1. Chemotherapy: The mainstay of treatment for DLBCL is combination

chemotherapy, often involving a regimen called R-CHOP (rituximab,
cyclophosphamide, doxorubicin, vincristine, and prednisone). This is typically
given in several cycles over several months.

2. Radiation therapy: In some cases, radiation therapy may be used after

chemotherapy to target specific areas of involvement, such as bulky tumors
or sites that are difficult to treat with chemotherapy alone.

3. Immunotherapy: The addition of immunotherapy, such as the monoclonal

antibody rituximab, to chemotherapy has improved outcomes in DLBCL.
4. Stem cell transplantation: For individuals with high-risk or relapsed
DLBCL, stem cell transplantation may be considered as a treatment option.
This involves replacing the patient's diseased bone marrow with healthy stem
cells.

39. Vitamin B12 deficiency anema. Etiology. Pathogenesis.

Vitamin B12 deficiency is a condition that occurs when the body lacks an
adequate amount of vitamin B12, a nutrient essential for various bodily
functions. Here's some information about vitamin B12 deficiency:

Etiology of Vitamin B12 Deficiency Anemia:

Vitamin B12 deficiency anemia can occur due to several reasons, including:

1. Inadequate dietary intake: Vitamin B12 is primarily found in animal-based

foods such as meat, fish, eggs, and dairy products. A lack of these foods in
the diet, particularly in vegetarian or vegan diets, can lead to deficiency.

2. Malabsorption: Certain conditions affect the absorption of vitamin B12 in

the gastrointestinal tract, such as pernicious anemia, Crohn's disease, celiac
disease, and surgical removal of the stomach or intestines.

3. Pernicious anemia: This is an autoimmune condition in which the body

mistakenly attacks and destroys cells in the stomach that produce intrinsic
factor, a protein necessary for the absorption of vitamin B12.

Pathogenesis of Vitamin B12 Deficiency Anemia:

Vitamin B12 plays a crucial role in the production of red blood cells and the
maintenance of a healthy nervous system. Its deficiency leads to the
following pathogenesis:

1. Impaired red blood cell production: Vitamin B12 is necessary for the proper
maturation of red blood cells in the bone marrow. Deficiency disrupts this
process, resulting in larger, abnormal red blood cells (megaloblasts) that are
unable to function effectively.

2. Disrupted DNA synthesis: Vitamin B12 is involved in the synthesis of DNA,

which is essential for cell division and growth. In its absence, DNA synthesis
is impaired, leading to abnormal red blood cell production.

3. Nerve damage: Vitamin B12 deficiency can cause damage to the nerves,
resulting in neurological symptoms such as tingling or numbness in the
hands and feet, balance difficulties, and memory problems.

40. Orotic aciduria. Etiology. Pathogenesis.

Orotic aciduria is a rare metabolic disorder characterized by the impaired

production or utilization of the compound uridine monophosphate (UMP),
resulting in the accumulation of orotic acid. Here's a brief overview of its
etiology and pathogenesis:

Etiology of Orotic Aciduria:

1. Inherited genetic defects: Orotic aciduria can be caused by inherited

genetic mutations affecting the enzymes involved in the biosynthesis or
utilization of UMP. Two primary types of orotic aciduria are known: Type I
orotic aciduria, which is caused by a deficiency of the enzyme uridine-5'-
monophosphate synthase (UMPS), and Type II orotic aciduria, which is
associated with defects in the UMP transporter.

Pathogenesis of Orotic Aciduria:

1. Impaired UMP synthesis: In Type I orotic aciduria, the deficiency of the

enzyme UMPS disrupts the conversion of orotic acid to UMP, a crucial step in
the synthesis of pyrimidines, which are necessary for DNA and RNA
production.

2. UMP utilization impairment: In Type II orotic aciduria, the defect lies in the
UMP transporter, which leads to the inefficient transport and utilization of
UMP in cells, resulting in the accumulation of orotic acid.

3. Consequences of UMP deficiency: The accumulation of orotic acid and

deficiency of UMP can disrupt DNA and RNA synthesis, leading to impaired
cell division and growth. This can affect the normal development and
functioning of various tissues and organs, particularly those with a high
turnover rate, such as the bone marrow.

.
 41. Chronic lymphocytic leukemia. Pathogenesis. Symptoms.

Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the white
blood cells called lymphocytes. Here's a brief overview of its pathogenesis
and symptoms:

Pathogenesis of Chronic Lymphocytic Leukemia:

1. Accumulation of abnormal lymphocytes: In CLL, there is an uncontrolled

growth and accumulation of abnormal lymphocytes, primarily B-
lymphocytes, in the bone marrow, blood, and lymphoid tissues. These
lymphocytes are mature but have a longer lifespan and reduced ability to
fight infections.

2. Genetic mutations: CLL is associated with specific genetic mutations that

disrupt the normal regulation of lymphocyte growth and survival. Mutations
in genes such as TP53, ATM, and NOTCH1 are commonly found in CLL.

3. Immune system dysfunction: The abnormal lymphocytes in CLL may

suppress the normal immune response, leading to an increased susceptibility
to infections.

Symptoms of Chronic Lymphocytic Leukemia:

1. Asymptomatic: In the early stages, CLL may not cause any symptoms, and
the diagnosis may be incidental during routine blood tests.

2. Lymphadenopathy: Enlarged lymph nodes, particularly in the neck,

armpits, and groin, are a common symptom of CLL.

3. Fatigue and weakness: CLL can cause fatigue and weakness due to
anemia or the disease burden on the body.

4. Infections: CLL weakens the immune system, making individuals more

prone to infections. Recurrent or severe infections may occur.

5. Easy bruising and bleeding: Low platelet counts associated with CLL can
lead to easy bruising, bleeding gums, and nosebleeds.
6. Enlarged spleen or liver: In some cases, CLL may cause enlargement of
the spleen or liver, leading to abdominal discomfort.

7. Weight loss and night sweats: Unexplained weight loss and night sweats
may be present in advanced stages of CLL.

42. Sickle cell anemia. Complications. Treatment

Sickle cell anemia is a genetic blood disorder characterized by abnormal

hemoglobin that causes red blood cells to become rigid and assume a sickle
shape. Here are some common complications and treatment options for
sickle cell anemia:

Complications of Sickle Cell Anemia:

1. Pain crises: Sickle-shaped red blood cells can get stuck in small blood
vessels, causing episodes of severe pain known as vaso-occlusive crises.

2. Anemia: Sickle cell anemia leads to chronic hemolytic anemia, where red
blood cells are destroyed faster than they can be replaced.

3. Infections: People with sickle cell anemia have a weakened immune system
and are more susceptible to infections, particularly those caused by bacteria.

4. Acute chest syndrome: It is a life-threatening condition characterized by

chest pain, fever, cough, and difficulty breathing. It can be caused by
infection or the blockage of blood vessels in the lungs.

5. Stroke: Sickle cell anemia increases the risk of stroke, particularly in

children, due to the reduced blood flow to the brain.

6. Organ damage: Sickle cell anemia can damage organs such as the spleen,
liver, kidneys, and eyes over time.

Treatment of Sickle Cell Anemia:

1. Pain management: Pain crises are managed with pain medications,

hydration, and warm compresses. Severe cases may require hospitalization
and stronger pain medications.

2. Hydroxyurea: This medication increases the production of fetal

hemoglobin, which reduces the number of sickle-shaped cells and decreases
the frequency of pain crises.

3. Blood transfusions: Regular blood transfusions can help prevent

complications by replacing sickle-shaped cells with healthy red blood cells.

4. Antibiotics and vaccinations: Prophylactic antibiotics are often prescribed

to prevent infections, and vaccinations, especially against pneumonia and
influenza, are recommended.

43. Orotic aciduria. Symptoms. Treatment.

Orotic aciduria is a rare metabolic disorder characterized by the

accumulation of orotic acid in the body. Here's a brief overview of its
symptoms and treatment:

Symptoms of Orotic Aciduria:

1. Failure to thrive: Infants with orotic aciduria may experience poor growth
and development.

2. Megaloblastic anemia: Orotic aciduria can cause a type of anemia

characterized by enlarged, immature red blood cells (megaloblasts).

3. Developmental delays: Some individuals with orotic aciduria may have

delayed milestones and intellectual disabilities.

4. Urinary abnormalities: Excessive excretion of orotic acid in the urine

(orotic aciduria) is a characteristic feature of the condition.

Treatment of Orotic Aciduria:

The treatment of orotic aciduria primarily involves supplementation with

uridine or uridine triacetate. These supplements bypass the enzyme or
transporter defects and provide an external source of uridine
monophosphate (UMP). UMP is crucial for the synthesis of pyrimidines,
which are essential components of DNA and RNA.

Supplemental uridine helps to normalize pyrimidine levels and promote

proper DNA and RNA synthesis, thereby improving the symptoms associated
with orotic aciduria.
 44. Extravascular hemolysis. Clinical presentation. Investigations.

Extravascular hemolysis is a type of hemolysis, where red blood cells are

broken down outside the bloodstream, primarily in the spleen and liver.
Here's a brief overview of its clinical presentation and investigations:

Clinical Presentation of Extravascular Hemolysis:

1. Anemia: Extravascular hemolysis can lead to a reduction in red blood cell

count, causing anemia. Symptoms may include fatigue, weakness, and
shortness of breath.

2. Jaundice: The breakdown of red blood cells releases bilirubin, which can
accumulate and cause yellowing of the skin and eyes (jaundice).

3. Splenomegaly: Due to increased red blood cell destruction, the spleen

may enlarge, leading to abdominal discomfort or fullness.

Investigations for Extravascular Hemolysis:

1. Complete blood count (CBC): A CBC can reveal a decreased red blood cell
count (anemia) and potential changes in other blood cell counts.

2. Reticulocyte count: Reticulocytes are immature red blood cells. An

increased reticulocyte count indicates increased red blood cell production in
response to hemolysis.

3. Bilirubin levels: Elevated levels of unconjugated bilirubin can indicate

excessive breakdown of red blood cells.

4. Peripheral blood smear: Examination of a blood smear under a microscope

can reveal characteristic changes in red blood cells, such as spherocytes (in
hereditary spherocytosis) or other abnormalities associated with the
underlying cause of hemolysis.

5. Direct antiglobulin test (Coombs test):

45. Nonmegaloblastic anemia. Etiology. Pathogenesis.

Nonmegaloblastic anemia refers to a group of anemias that are not

characterized by the presence of megaloblasts, which are abnormally large
and immature red blood cells. Here's a brief overview of the etiology and
pathogenesis of nonmegaloblastic anemia:

Etiology of Nonmegaloblastic Anemia:

1. Iron deficiency anemia: The most common cause of nonmegaloblastic

anemia is iron deficiency, which can occur due to inadequate dietary intake,
poor iron absorption, increased iron requirements, or chronic blood loss.

2. Chronic diseases: Conditions such as chronic kidney disease, chronic

inflammation, malignancies, and autoimmune disorders can contribute to
nonmegaloblastic anemia by impairing red blood cell production or
increasing their destruction.

3. Hemolytic anemias: Various types of hemolytic anemias, including

hereditary conditions like hereditary spherocytosis or acquired conditions
like autoimmune hemolytic anemia, can cause nonmegaloblastic anemia by
accelerating the destruction of red blood cells.

4. Anemia of chronic disease: Inflammatory conditions, infections, and

chronic diseases can lead to anemia characterized by impaired red blood cell
production and abnormal iron utilization, known as anemia of chronic disease
or anemia of inflammation.

Pathogenesis of Nonmegaloblastic Anemia:

The pathogenesis of nonmegaloblastic anemia can vary depending on the

specific underlying cause. However, some common mechanisms involved
include:

1. Impaired red blood cell production: Many nonmegaloblastic anemias are

associated with inadequate production of red blood cells in the bone marrow.
This can be due to deficiencies in essential nutrients like iron, vitamin B12, or
folate, or disturbances in bone marrow function caused by chronic diseases
or genetic abnormalities.

2. Increased red blood cell destruction: Hemolytic anemias involve the

premature destruction of red blood cells, either due to intrinsic defects in the
red blood cells themselves or as a result of immune-mediated processes or
mechanical factors.
3. Abnormal iron metabolism: Iron deficiency anemia, a common type of
nonmegaloblastic anemia, occurs when there is an insufficient supply of iron
to support the production of hemoglobin. This can lead to decreased red
blood cell production and smaller red blood cells.

46. Differences between hodgkin and non-hodgkin lymphoma.

Hodgkin lymphoma and non-Hodgkin lymphoma are two distinct types of

lymphoma, which are cancers that affect the lymphatic system. Here are
some key differences between the two:

1. Cell of origin: Hodgkin lymphoma is characterized by the presence of

Reed-Sternberg cells, large abnormal cells that are derived from B-
lymphocytes. Non-Hodgkin lymphoma encompasses a wide range of
lymphomas, with various subtypes derived from B-cells or T-cells.

2. Spread: Hodgkin lymphoma typically spreads in a predictable manner,

involving lymph nodes in a contiguous pattern. Non-Hodgkin lymphoma can
spread in a non-contiguous or extranodal pattern, affecting multiple lymph
nodes and extranodal sites.

3. Staging: Hodgkin lymphoma is staged using the Ann Arbor staging system,
which classifies the disease based on the involvement of lymph nodes above
or below the diaphragm, as well as the presence of extranodal involvement.
Non-Hodgkin lymphoma uses different staging systems depending on the
subtype and may consider factors such as tumor size, spread, and presence
of systemic symptoms.

4. Prognosis: The prognosis for Hodgkin lymphoma is generally favorable,

with high cure rates, particularly in early-stage disease. Non-Hodgkin
lymphoma has a more varied prognosis, with outcomes depending on the
specific subtype, stage, and other clinical factors.

5. Treatment approaches: Treatment for Hodgkin lymphoma typically involves

chemotherapy, radiation therapy, or a combination of both. Non-Hodgkin
lymphoma treatment varies depending on the subtype and may include
chemotherapy, targeted therapy, immunotherapy, radiation therapy, or stem
cell transplantation.

47. Intravascular hemolysis. Clinical presentation. Investigations.

Intravascular hemolysis refers to the destruction of red blood cells within the
bloodstream. Here's a very short overview of its clinical presentation and
investigations:

Clinical Presentation of Intravascular Hemolysis:

1. Hemoglobinuria: Intravascular hemolysis can lead to the release of free

hemoglobin into the bloodstream, which can then be filtered by the kidneys
and excreted in the urine. This can cause the urine to appear dark or red
(hemoglobinuria).

2. Jaundice: The breakdown of red blood cells releases bilirubin, leading to

the accumulation of bilirubin in the bloodstream and subsequent jaundice,
characterized by yellowing of the skin and eyes.

3. Anemia: The rapid destruction of red blood cells can result in anemia,
leading to symptoms such as fatigue, weakness, and shortness of breath.

Investigations for Intravascular Hemolysis:

1. Complete blood count (CBC): A CBC can reveal a decreased red blood cell
count (anemia) and potential changes in other blood cell counts.

2. Hemoglobin and haptoglobin levels: Intravascular hemolysis can lead to

decreased levels of circulating hemoglobin and haptoglobin, a protein that
binds free hemoglobin.

3. Reticulocyte count: Reticulocytes are immature red blood cells. An

increased reticulocyte count indicates increased red blood cell production in
response to hemolysis.

4. Peripheral blood smear: Examination of a blood smear under a microscope

can reveal characteristic changes in red blood cells, such as fragmented
cells (schistocytes) or other abnormalities associated with the underlying
cause of hemolysis.

5. Direct antiglobulin test (Coombs test): This test can help determine if the
hemolysis is immune-mediated, such as in autoimmune hemolytic anemia.

48. Iron poisoning. Symptoms. Treatment.

Iron poisoning, also known as iron overdose or acute iron toxicity, occurs
when there is an excessive amount of iron in the body. Here's a brief
overview of its symptoms and treatment:

Symptoms of Iron Poisoning:

1. Abdominal pain: Severe abdominal pain is a common symptom of iron

poisoning. It may be accompanied by nausea, vomiting, and diarrhea.

2. Hematemesis: In severe cases, there may be vomiting of blood, which can

indicate gastrointestinal bleeding.

3. Lethargy and weakness: Iron poisoning can cause general weakness,

fatigue, and dizziness.

4. Shock: In severe cases, iron poisoning can lead to shock, with symptoms
such as low blood pressure, rapid heart rate, and decreased consciousness.

5. Liver and kidney damage: Iron toxicity can affect the liver and kidneys,
leading to abnormal liver function tests and kidney injury.

Treatment of Iron Poisoning:

1. Decontamination: If iron ingestion is recent, attempts may be made to

remove unabsorbed iron from the stomach using gastric lavage or
administration of activated charcoal.

2. Chelation therapy: Chelation therapy involves administering medications

that bind to iron and help remove it from the body. Commonly used chelating
agents for iron poisoning include deferoxamine and deferasirox. Chelation
therapy may be necessary in cases of severe iron poisoning or when blood
iron levels are significantly elevated.

3. Supportive care: Supportive care is provided to manage symptoms and

complications associated with iron poisoning. This may include intravenous
fluids, blood transfusions if needed, and close monitoring of vital signs and
organ function.

4. Monitoring and follow-up: Individuals with iron poisoning require close

monitoring of their blood iron levels, as well as liver and kidney function
tests. Long-term follow-up may be necessary to assess for any potential
complications or iron overload-related conditions.

49. Glanzmann thromboasthenia. Causes. Symptoms.

Glanzmann thrombasthenia is a rare inherited bleeding disorder

characterized by a deficiency or dysfunction of a protein called glycoprotein
IIb/IIIa on the surface of platelets. Here's a very short overview of its causes
and symptoms:

Causes of Glanzmann Thrombasthenia:

Glanzmann thrombasthenia is primarily caused by genetic mutations

affecting the glycoprotein IIb/IIIa complex, which plays a critical role in
platelet aggregation and clot formation.

Symptoms of Glanzmann Thrombasthenia:

1. Easy bruising: Individuals with Glanzmann thrombasthenia may experience

spontaneous bruising or develop bruises with minimal trauma.

2. Prolonged bleeding: The most significant symptom is prolonged bleeding,

which can occur from minor cuts, dental procedures, or surgeries. Bleeding
episodes may be severe and difficult to control.

3. Nosebleeds and gum bleeding: Nosebleeds (epistaxis) and bleeding from

the gums (gingival bleeding) are common manifestations of Glanzmann
thrombasthenia.

4. Heavy menstrual bleeding: Women with Glanzmann thrombasthenia may

experience abnormally heavy or prolonged menstrual

50. Immune thrombocytopenia. Symptoms. Treatment.

Immune thrombocytopenia, also known as idiopathic thrombocytopenic

purpura (ITP), is an autoimmune disorder characterized by low platelet
counts. Here's a very short overview of its symptoms and treatment:

Symptoms of Immune Thrombocytopenia:

1. Easy bruising: Individuals with immune thrombocytopenia may experience
easy or excessive bruising, even with minor trauma.

2. Petechiae and purpura: Small, pinpoint-sized red or purple spots

(petechiae) or larger patches of purple discoloration (purpura) may appear
on the skin or mucous membranes.

3. Nosebleeds and gum bleeding: Spontaneous nosebleeds (epistaxis) or

bleeding from the gums (gingival bleeding) can occur.

4. Excessive menstrual bleeding: Women with immune thrombocytopenia

may experience abnormally heavy or prolonged menstrual bleeding
(menorrhagia).

Treatment of Immune Thrombocytopenia:

1. Observation: In mild cases, especially in children, close monitoring of

platelet counts may be sufficient, as spontaneous recovery can occur.

2. Corticosteroids: Oral or intravenous corticosteroids are often the first-line

treatment to increase platelet counts by suppressing the immune response.

3. Intravenous immunoglobulin (IVIG): IVIG is a concentrated solution of

immunoglobulins that can temporarily boost platelet counts.

4. Thrombopoietin receptor agonists: Medications that stimulate the

production of platelets, such as eltrombopag or romiplostim, may be used in
cases that do not respond to other treatments.

5. Splenectomy: Surgical removal of the spleen (splenectomy) may be

considered for individuals who do not respond to other therapies or have
severe and recurrent episodes of immune thrombocytopenia.

51. Thrombotic thrombocytopenic purpura. Pathogenesis. Symptoms.

Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder

characterized by the formation of small blood clots throughout the body.
Here's a very short overview of its pathogenesis and symptoms:

Pathogenesis of Thrombotic Thrombocytopenic Purpura:

TTP is primarily caused by a deficiency or dysfunction of a protein called
ADAMTS13, which is involved in breaking down a larger protein called von
Willebrand factor (vWF). Reduced levels of ADAMTS13 lead to the
accumulation of ultra-large vWF multimers, which promote abnormal clot
formation in small blood vessels.

Symptoms of Thrombotic Thrombocytopenic Purpura:

1. Microangiopathic hemolytic anemia: TTP leads to the destruction of red

blood cells as they pass through the clots, resulting in anemia. This can
manifest as fatigue, pale skin, and shortness of breath.

2. Thrombocytopenia: TTP causes low platelet counts, which can lead to

easy bruising, bleeding, and the formation of small red or purple spots on the
skin (purpura).

3. Neurological abnormalities: TTP can affect the nervous system, leading to

symptoms such as confusion, headache, seizures, and changes in behavior.

4. Kidney problems: TTP can impair kidney function, resulting in decreased

urine output, fluid retention, and symptoms of kidney failure.

5. Fever and fatigue: Individuals with TTP may experience general symptoms
such as fever, fatigue, and weakness.

52. Hemolytic uremic syndrome. Clinical presentation. Investigations.

Hemolytic uremic syndrome (HUS) is a condition characterized by the

destruction of red blood cells, kidney injury, and low platelet counts. Here's a
very short overview of its clinical presentation and investigations:

Clinical Presentation of Hemolytic Uremic Syndrome:

1. Hemolytic anemia: HUS causes the breakdown of red blood cells, leading
to anemia. Symptoms may include fatigue, pale skin, and shortness of
breath.

2. Kidney injury: HUS can result in acute kidney injury, leading to decreased
urine output, swelling, high blood pressure, and signs of kidney dysfunction.

3. Low platelet counts: HUS is associated with low platelet counts, which can
manifest as easy bruising, bleeding, and the formation of small red or purple
spots on the skin (purpura).

4. Gastrointestinal symptoms: In some cases, HUS may be preceded by

gastrointestinal symptoms such as diarrhea, often bloody, and abdominal
pain.

Investigations for Hemolytic Uremic Syndrome:

1. Complete blood count (CBC): A CBC is performed to assess red blood cell
count, hemoglobin levels, and platelet counts. In HUS, there may be
evidence of anemia and low platelet counts.

2. Kidney function tests: Blood tests such as serum creatinine and blood urea
nitrogen (BUN) levels are measured to evaluate kidney function. In HUS,
these markers may be elevated, indicating kidney injury.

3. Coagulation studies: Tests such as prothrombin time (PT) and activated

partial thromboplastin time (aPTT) may be performed to assess blood
clotting function. Abnormalities may be observed in HUS due to platelet
dysfunction.

4. Stool culture: A stool culture may be conducted to identify potential

bacterial pathogens, such as Escherichia

53. Von Willebrand disease. Symptoms. Treatment.

Von Willebrand disease (VWD) is a genetic bleeding disorder characterized

by a deficiency or dysfunction of von Willebrand factor, a protein involved in
blood clotting. Here's a very short overview of its symptoms and treatment:

Symptoms of Von Willebrand Disease:

1. Easy bruising: Individuals with VWD may experience easy or excessive

bruising, even with minor trauma.

2. Nosebleeds and gum bleeding: Spontaneous nosebleeds (epistaxis) or

bleeding from the gums (gingival bleeding) can occur.

3. Prolonged or heavy menstrual bleeding: Women with VWD may experience

abnormally heavy or prolonged menstrual bleeding (menorrhagia).
4. Gastrointestinal bleeding: Some individuals with VWD may experience
gastrointestinal bleeding, resulting in blood in the stool or black, tarry stools
(melena).

Treatment of Von Willebrand Disease:

1. Desmopressin (DDAVP): This synthetic hormone can stimulate the release

of von Willebrand factor from storage sites in the body, temporarily
increasing its levels.

2. Replacement therapy: Infusions of von Willebrand factor concentrates or

plasma-derived clotting factor concentrates may be given to increase the
levels of von Willebrand factor in the blood.

3. Antifibrinolytic medications: Medications such as tranexamic acid can be

used to prevent the breakdown of blood clots and reduce bleeding.

4. Hormonal therapies: In women with VWD and heavy menstrual bleeding,

54. Disseminated intravascular coagulation. Pathogenesis. Symptoms

Disseminated intravascular coagulation (DIC) is a complex disorder

characterized by abnormal blood clotting and excessive bleeding. Here's a
very short overview of its pathogenesis and symptoms:

Pathogenesis of Disseminated Intravascular Coagulation:

DIC occurs as a result of underlying conditions or triggers that activate the

body's clotting system. These triggers can include sepsis, trauma, cancer,
obstetric complications, and certain infections. The activation of clotting
factors leads to the widespread formation of blood clots within the blood
vessels, consuming clotting factors and platelets, and causing damage to
organs.

Symptoms of Disseminated Intravascular Coagulation:

1. Bleeding: DIC can cause bleeding from various sites, such as the gums,
nose, gastrointestinal tract, or urinary tract. Excessive bruising, purpura, and
petechiae (small red or purple spots on the skin) may also be observed.
2. Organ dysfunction: DIC can result in organ dysfunction due to the
formation of clots in small blood vessels, leading to decreased blood flow.
This can manifest as confusion, respiratory distress, kidney dysfunction, or
liver impairment.

3. Symptoms of underlying condition: Depending on the underlying cause of

DIC, individuals may exhibit symptoms related to the primary condition, such
as fever, infection signs, or signs of severe sepsis.

4. Laboratory abnormalities: Blood tests may reveal abnormalities such as

low platelet counts, prolonged clotting times, decreased fibrinogen levels,
and elevated levels of fibrin degradation products.

55. Differences between leukemia and lymphoma. Morphologic picture.

Leukemia and lymphoma are both types of cancers that affect the blood and
lymphatic system, but they differ in their origin and morphologic picture:

Leukemia:
- Origin: Leukemia originates in the bone marrow, where abnormal cells
(usually white blood cells) multiply and crowd out normal blood cells.
- Morphologic Picture: In leukemia, abnormal cells infiltrate the bone marrow
and circulate in the blood. They can be observed as increased blast cells or
abnormal white blood cells in the peripheral blood and bone marrow.

Lymphoma:
- Origin: Lymphoma originates in the lymphatic system, specifically in the
lymph nodes or lymphoid tissues.
- Morphologic Picture: Lymphoma typically presents as localized or
generalized lymph node enlargement, along with involvement of other
lymphoid tissues. The lymph nodes show abnormal lymphoid cell
proliferation and infiltration.

56. Hodgkin lymphoma. Subtypes and prognosis.

Hodgkin lymphoma is a type of lymphoma characterized by the presence of

Reed-Sternberg cells. Here's a very short overview of its subtypes and
prognosis:

Subtypes of Hodgkin Lymphoma:

1. Classical Hodgkin Lymphoma: The majority of Hodgkin lymphoma cases
fall into this category, which includes subtypes such as nodular sclerosis,
mixed cellularity, lymphocyte-rich, and lymphocyte-depleted.

2. Nodular Lymphocyte-Predominant Hodgkin Lymphoma: This subtype is

less common and characterized by the presence of lymphocytic and
histiocytic cells, known as popcorn cells.

Prognosis of Hodgkin Lymphoma:

- Overall, the prognosis for Hodgkin lymphoma is generally favorable, with a
high cure rate, especially for early-stage disease.
- The prognosis depends on various factors, including the stage of the
disease, the presence of specific risk factors, such as high tumor burden or
certain clinical features, and the response to treatment.
- Subtype classification also plays a role, with nodular lymphocyte-
predominant Hodgkin lymphoma generally having a better prognosis
compared to classical Hodgkin lymphoma.

57. Non-hodgkin lymphoma. Neoplasm of mature B-cells. Types.

Non-Hodgkin lymphoma (NHL) is a diverse group of lymphomas that arise

from neoplastic transformation of mature B-cells. Here's a very short
overview of some common types of NHL:

1. Diffuse Large B-cell Lymphoma (DLBCL): DLBCL is the most common

subtype of NHL, characterized by rapidly growing large B-cells.

2. Follicular Lymphoma (FL): FL is a slower-growing lymphoma, characterized

by the presence of abnormal B-cells arranged in follicle-like structures.

3. Mantle Cell Lymphoma (MCL): MCL is an aggressive subtype

characterized by the presence of abnormal B-cells that originate from the
mantle zone of the lymph nodes.

4. Burkitt Lymphoma (BL): BL is a highly aggressive subtype, often

associated with a translocation involving the c-Myc gene, and characterized
by rapidly dividing B-cells.

5. Marginal Zone Lymphoma (MZL): MZL is a group of indolent lymphomas

that arise from the marginal zone of lymphoid tissues.
 58. Multiple myeloma. Clinical presentation. Investigations.

Multiple myeloma is a type of blood cancer that affects plasma cells, which
are a type of white blood cell that produces antibodies. Here's a very short
overview of its clinical presentation and investigations:

Clinical Presentation of Multiple Myeloma:

- Bone pain: Patients often experience bone pain, especially in the spine,
ribs, and hips.
- Fatigue: Weakness and fatigue are common symptoms due to anemia.
- Bone fractures: Weakening of the bones can lead to fractures with minimal
trauma.
- Kidney problems: Multiple myeloma can cause kidney damage, leading to
symptoms like increased thirst, frequent urination, and fluid retention.
- Recurrent infections: Weakened immune function can result in an increased
susceptibility to infections.

Investigations for Multiple Myeloma:

- Blood tests: Laboratory tests can show abnormal levels of proteins, such as
monoclonal immunoglobulins, and markers of kidney function and blood
counts.
- Bone marrow biopsy: Examination of the bone marrow sample helps to
identify the presence of abnormal plasma cells and assess their
characteristics.
- Imaging studies: X-rays, CT scans, or MRI scans may be performed to
evaluate bone involvement and detect bone lesions.
- Urine tests: Urine tests can detect abnormal proteins, such as Bence Jones
proteins, which are light chains produced by myeloma

59. Plasma cell dyscasias. Etiology. Pathogenesis.

Plasma cell dyscrasias are a group of disorders characterized by abnormal

proliferation of plasma cells. Here's a very short overview of their etiology
and pathogenesis:

Etiology of Plasma Cell Dyscrasias:

- The exact causes of plasma cell dyscrasias are not fully understood.
- Genetic factors, exposure to certain chemicals or radiation, and viral
infections have been implicated in the development of these disorders.
Pathogenesis of Plasma Cell Dyscrasias:
- Plasma cell dyscrasias arise from the clonal expansion of a single abnormal
plasma cell, which produces excessive amounts of monoclonal
immunoglobulins (M proteins).
- The excessive production of these abnormal proteins can lead to organ
damage and disruption of normal immune function.
- The pathogenesis involves complex interactions between the abnormal
plasma cells, bone marrow microenvironment, and immune system
dysregulation.

60. Acute lymphoblastic leukemia. Causes. Clinical presentation.

Acute lymphoblastic leukemia (ALL) is a type of cancer characterized by the

rapid proliferation of immature lymphoblasts in the bone marrow. Here's a
very short overview of its causes and clinical presentation:

Causes of Acute Lymphoblastic Leukemia:

- The exact causes of ALL are not well understood.
- Certain genetic and environmental factors, such as exposure to radiation,
certain chemicals, or certain inherited genetic conditions, may increase the
risk of developing ALL.

Clinical Presentation of Acute Lymphoblastic Leukemia:

- Fatigue: Patients often experience extreme tiredness and weakness due to
low red blood cell counts (anemia).
- Infections: Weakened immune function leads to an increased susceptibility
to infections.
- Bleeding and Bruising: Low platelet counts can result in easy bruising and
prolonged bleeding.
- Bone and Joint Pain: Bone and joint pain may occur due to the infiltration of
leukemic cells into the bones.
- Enlarged Lymph Nodes, Liver, or Spleen: Swollen lymph nodes, liver, or
spleen may be observed during physical examination.