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Hematologic Diseases
Hematologic Diseases
pallor
frequent nosebleeds
Laboratory tests
The cardinal symptoms and signs associated with Clotting Time ( CT) or Coagulation time
hematologic disease are those resulting from: Activated Partial Thromboplastin Time
1. Underproduction or overproduction of : (APTT). – Intrinsic factor
When is it ordered?
Hemoglobin :
Hematocrit :
In the healthy young adult the rapid loss of 500 to CBC, serum iron, iron-binding capacity, and
1000ml of blood (10% to 20% of blood volume) is serum ferritin
usually tolerated without symptoms. Some have
weakness, sweating, nausea, bradycardia, Rarely bone marrow examination
hypotension and syncope. Treatment
The rapid loss of 1000 to 1500ml of blood (20% to Oral supplemental iron
30% of blood volume) may cause symptoms only in
the upright position or with exertion. Rarely parenteral iron
Many patients with folate deficiency appear wasted, At the end of their normal life span (about 120
particularly with temporal wasting. days), RBCs are removed from the circulation.
Hemolysis involves premature destruction and
Diagnosis hence a shortened RBC life span (< 120 days).
CBC, RBC indices, reticulocyte count, and Anemia results when bone marrow production can
peripheral smear no longer compensate for the shortened RBC
survival; this condition is termed hemolytic anemia.
Sometimes bone marrow examination
If the marrow can compensate, the condition is
Treatment is directed at the underlying disorder.
termed compensated hemolytic anemia.
Aplastic anemia
Hereditary spherocytosis
Aplastic anaemia is a rare disease in which the bone
Hereditary SPHEROcytosis (chronic familial icterus;
marrow and the hematopoietic stem cells that reside
congenital hemolytic jaundice; familial
there are damaged.
spherocytosis; spherocytic anemia) is an autosomal
This causes a deficiency of all three blood cell types dominant disease with variable gene penetrance.
(pancytopenia): red blood cells (anemia), white
It is characterized by hemolysis of spheroidal RBCs
blood cells (leukopenia), and platelets
and anemia.
(thrombocytopenia).
Alterations in membrane proteins cause the RBC
Aplastic refers to the inability of stem cells to
abnormalities.
generate mature blood cells.
The cell membrane surface area is decreased
It is more frequent in people in their teens and
disproportionately to the intracellular content. The
twenties, but is also common among the elderly.
decreased surface area of the cell impairs the
It can be caused by heredity, immune disease, or flexibility needed for the cell to traverse the spleen’s
exposure to chemicals, drugs, or radiation. microcirculation, causing intrasplenic hemolysis.
However, in about half the cases, the cause is Symptoms and signs of hereditary spherocytosis are
unknown. usually mild, and the anemia may be so well
compensated that it is not recognized until an
Symptoms include fatigue, weakness, dizziness, and
intercurrent viral illness transiently decreases RBC
shortness of breath. It can cause heart problems production, simulating an aplastic crisis.
such as an irregular heartbeat, an enlarged heart,
and heart failure. You may also have frequent However, these episodes are self-limited, resolving
infections and bleeding. with resolution of the infection.
Moderate jaundice and symptoms of anemia are Sickle cell disease
present in severe cases.
Sickle cell anemia is an inherited form of anemia.
Splenomegaly is almost invariable but only rarely
Normally, your red blood cells are flexible and round,
causes abdominal discomfort.
moving easily through your blood vessels.
Hepatomegaly may be present.
In sickle cell anemia, the red blood cells become rigid
Cholelithiasis (pigment stones) is common and may and sticky and are shaped like sickles or crescent
be the presenting symptom. moons.
Congenital skeletal abnormalities (eg, tower-shaped These irregularly shaped cells can get stuck in small
skull, polydactylism) occasionally occur. blood vessels, which can slow or block blood flow
and oxygen to parts of the body.
Diagnosis
Anemia. Sickle cells are fragile. They break apart
RBC fragility assay, RBC autohemolysis assay,
easily and die, leaving you without a good supply of
and direct antiglobulin (Coombs) test red blood cells.
Splenectomy (review function of spleen) is the only Episodes of pain. Periodic episodes of pain, called
specific treatment for the disorder but is rarely crises, are a major symptom of sickle cell anemia.
needed. Pain develops when sickle-shaped red blood cells
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency block blood flow through tiny blood vessels to your
chest, abdomen and joints. Pain can also occur in
This enzyme, which is active in virtually all types of your bones
cells, is involved in the normal processing of
carbohydrates. It plays a critical role in red blood Hand-foot syndrome. Swollen hands and feet may
cells, which carry oxygen from the lungs to tissues be the first signs of sickle cell anemia in babies. The
throughout the body. This enzyme helps protect red swelling is caused by sickle-shaped red blood cells
blood cells from damage and premature blocking blood flow out of their hands and feet.
destruction. Frequent infections. Sickle cells can damage your
G6PD deficiency reduces energy available to spleen, an organ that fights infection. This may make
maintain the integrity of the red cell membrane, you more vulnerable to infections
which shortens RBC survival. Delayed growth. Red blood cells provide your body
Hemolysis occurs commonly after fever, acute viral with the oxygen and nutrients you need for growth.
or bacterial infections, and diabetic acidosis. A shortage of healthy red blood cells can slow
growth in infants and children and delay puberty in
Less commonly, hemolysis occurs after exposure to teenagers.
drugs or to other substances that produce peroxide
and cause oxidation of Hb and RBC membranes. Vision problems. Some people with sickle cell
anemia experience vision problems. Tiny blood
These drugs and substances include primaquine, vessels that supply your eyes may become plugged
salicylates, sulfonamides, nitrofurans, phenacetin, with sickle cells. This can damage the retina — the
naphthalene, some vitamin K portion of the eye that processes visual images.
derivatives, dapsone, phenazopyridine, nalidixic acid,
methylene blue Diagnosis
Treatment
Broad-spectrum antibiotics (for infection) Chronic granulomatous disease
Analgesics and IV hydration (for vaso- Chronic granulomatous disease (CGD) is a primary
occlusive pain crisis) immunodeficiency that affects phagocytes of the
innate immune system and leads to recurrent or
Sometimes transfusions
persistent intracellular bacterial and fungal
Immunizations, folate supplementation, infections and to granuloma formation.
and hydroxyurea (for health maintenance) The disease becomes apparent during the first 2
Thalassemia years of life in most patients, but the onset is
occasionally delayed into the second decade of life.
These are groups of inherited microcytic, hemolytic
anemias characterized by defective hemoglobin The earliest manifestations often involve the
synthesis. skin. Recurrent pyodermas are common, and
they often appear as perianal, axillary, or
It results from unbalanced Hb synthesis caused by scalp abscesses.
decreased production of at least one globin
polypeptide chain. Systemic findings include osteomyelitis,
pulmonary abscesses and granulomas,
In Beta thalassemia, decreased production of the spleen and/or liver abscesses, and
Beta chain is observed; autosomal inheritance hepatosplenomegaly.
Alpha thalassemia which results from decreased Pyrexia may be noted.
production of alpha chains.
Diarrhea may occur.
Clinical features of thalassemias are similar but vary
in severity.
Splenectomy
Rituximab
Other immunosuppressants
In childhood ITP, the autoantibody may be triggered VWF is also required to maintain normal plasma
by viral antigens. factor VIII levels. Levels of VWF can temporarily
increase in response to stress, exercise, pregnancy,
The trigger in adults is unknown. inflammation, or infection.
ITP tends to worsen during pregnancy and increases Von Willebrand disease (VWD) is a hereditary
the risk of maternal morbidity. deficiency of von Willebrand factor (VWF), which
The symptoms and signs are petechiae, purpura, and causes platelet dysfunction.
mucosal bleeding. Bleeding manifestations are mild to moderate and
Gross GI bleeding and hematuria are less common. include easy bruising, mucosal bleeding, bleeding
from small skin cuts that may stop and start over
The spleen is of normal size unless it is enlarged by a hours, sometimes increased menstrual bleeding, and
coexisting viral infection or autoimmune hemolytic abnormal bleeding after surgical procedures (eg,
anemia. tooth extraction, tonsillectomy).
Like the other disorders of increased platelet Platelets function well enough that petechiae and
destruction, ITP is also associated with an increased purpura do not occur.
risk of thrombosis.
Diagnosis requires measuring total plasma VWF
Diagnosis antigen, VWF function as determined by the ability
of plasma to support agglutination of normal
CBC with platelets, peripheral blood smear
platelets by ristocetin (ristocetin cofactor activity),
Rarely bone marrow aspiration and plasma factor VIII level.
Exclusion of other thrombocytopenic Patients are treated only if they are actively bleeding
disorders or are undergoing an invasive procedure (eg,
surgery, dental extraction).
Treatment
Desmopressin is an analog
Oral corticosteroids of vasopressin (antidiuretic hormone) that stimulates
release of VWF into the plasma and may increase monitored for some time before treatment to
levels of factor VIII. ensure maximum effectiveness of therapy.
These cells develop in bone marrow, but eventually Pathologic fractures are common, and vertebral
travel into the blood. collapse may lead to spinal cord compression and
paraplegia.
CLL develops when too many abnormal lymphocytes
grow, crowding out normal blood cells. Symptoms of anemia predominate or may be the
sole reason for evaluation in some patients, and a
(CML) occurs mainly in adults. A very small number few patients have manifestations of hyperviscosity
of children also develop this disease. syndrome .
Chronic myelogenous (or myeloid or myelocytic) Peripheral neuropathy, carpal tunnel syndrome,
leukemia (CML), also known as chronic granulocytic abnormal bleeding, and symptoms of hypercalcemia
leukemia (CGL), is a cancer of the white blood cells. (eg, polydipsia, dehydration) are common.
It is a form of leukemia characterized by the Patients may also present with renal failure.
increased and unregulated growth of predominantly
myeloid cells in the bone marrow and the Lymphadenopathy and hepatosplenomegaly are
accumulation of these cells in the blood. unusual.