What is Anemia?

Anemia is an abnormally low level of red blood cell

Red blood cells contain hemoglobin. Hemoglobin is a protein that

carries oxygen in the blood.

Red blood cells are produced in the bone marrow and then
released into the bloodstream. Normally, they live for 110 to 120
days. Older red blood cells are removed from the blood by the
spleen and liver.

Anemia can occur when the bone marrow does not produce enough
red blood cells to replace those that have died. Or it can occur if the
red blood cells die or are destroyed more quickly than usual.
Reasons for under-production of red blood cells by the bone
marrow include:

Ÿ iron deficiency caused by inadequate intake, blood loss, or poor

absorption from the intestine

Ÿ vitamin B12 deficiency from either a strict vegetarian diet or an

inability to absorb vitamin B12 (known as pernicious anemia).
Ÿ chronic diseases, especially inflammatory diseases such as
rheumatoid arthritis
Ÿ a side effect of some medications, especially chemotherapy
Ÿ a disease of the bone marrow, such as aplastic anemia.

When red blood cells are destroyed too quickly, it's known as
hemolytic anemia. This can happen when:

Ÿ red blood cells have an abnormally short life span

Ÿ there is something wrong with the red blood cells

Ÿ the red blood cells are normal but are destroyed by over active
spleen
Ÿ Causes of hemolytic anemia include:

Ÿ inherited abnormalities of red blood cells, such as sickle cell anemia

Ÿ physical damage to red blood cells, which can occur, for example,
during heart bypass surgery or as the blood flows through artificial
heart valves

Ÿ autoimmune hemolytic anemia, a condition in which the body's

immune system mistakenly destroys its own red blood cells

Ÿ an enlarged and overactive spleen (hypersplenism), which can trap

circulating red blood cells and destroy them before they are old.

Symptoms
Ÿ pale skin

Ÿ fatigue

Ÿ weakness

Ÿ dizziness

Ÿ lightheadedness
Ÿ breathlessness.
 Diagnosis
Ÿ pale skin and fingernails

Ÿ rapid pulse

Ÿ heart murmur

Ÿ enlarged spleen and liver.

blood tests

Ÿ measure the levels of red blood cells

Ÿ look at the size and shape of red blood cells

Ÿ measure the hemoglobin level

Ÿ determine the number of immature red blood cells (the bone marrow may pour
out immature blood cells in an effort to make up for the anemia).

Prevention
Anemia caused by nutritional deficiency can be prevented by eating a healthy
diet or taking a vitamin and mineral supplement when iron or B12 intake might be
insufficient.

Most other types of anemia cannot be prevented.

Treatment
Treatment of anemia depends on its severity and cause. Severe anemia may
require blood transfusion.

Iron and vitamin B12 deficiency require supplements, which are usually taken by
mouth.

Anemia caused by a drug is treated by stopping the drug.

Autoimmune hemolytic anemia is usually treated with drugs called corticosteroids

first. Other therapies are added if needed.

Inherited hemolytic anemia may require removal of the spleen (a procedure

called splenectomy).

What is aplastic anemia?

Aplastic anemia is when your body stops making new red blood cells,
 white blood cells, and platelets. Red blood cells, white blood cells, and platelets
are made in the bone marrow. Bone marrow is soft, spongy tissue inside the
bone. Red blood cells carry oxygen to all the organs and tissues of your body.
White blood cells help your body fight infection by attacking and killing germs.
Platelets stop the bleeding when you are cut or injured.

What causes aplastic anemia?

The cause of aplastic anemia may not be known. You may have been born with
aplastic anemia. Any of the following may have damaged your bone marrow and
caused aplastic anemia:

Ÿ Radiation or chemotherapy treatments

Ÿ Exposure to toxic chemicals, such as insecticides or pesticides

Ÿ Antibiotics or medicines to treat rheumatoid arthritis

Ÿ A viral infection

Ÿ An autoimmune disorder that causes your immune system to attack your own
bone marrow

What are the signs and symptoms of aplastic

anemia?
Ÿ Feeling tired and weak

Ÿ Headaches or dizziness

Ÿ Pale, clammy skin

Ÿ Shortness of breath when you exercise

Ÿ Bruising easily, or getting bruises when you have not bumped into anything

Ÿ Bleeding from your gums or nose, blood in your bowel movement or urine, or
bleeding longer or more than usual after a cut

Ÿ Fever, nausea, vomiting

Ÿ Colds or infections that do not get better or keep coming back

How is aplastic anemia diagnosed?

 Your healthcare provider will examine you and ask about your symptoms. You
may also need any of the following:

Ÿ Blood tests are used to find which types of blood cells are low. This will help
healthcare providers plan your treatment.

Ÿ A bone marrow biopsy is a procedure used to take a sample of bone marrow.

This will help healthcare providers know which types of blood cells are low.

How is aplastic anemia treated?

Your other medicines or treatments may be stopped if they are causing your
aplastic anemia. Ask for more information about these and other treatments you
may need:

Ÿ Medicines may be given to help trigger your bone marrow to start making new
red blood cells, white blood cells, and platelets. You may also need medicines to
help prevent your body from attacking its own bone marrow. This may help the
bone marrow make more blood cells.

Ÿ A blood transfusion may be needed to replace blood you have lost. You may
need more than one transfusion.

Ÿ A bone marrow or stem cell transplant is a procedure used to replace your

stem cells with healthy cells. Stem cells are the part of the bone marrow that
make the red blood cells, white blood cells, and platelets. The transplanted stem
cells return to the bone marrow, grow, and start producing red blood cells, white
blood cells, and platelets.

Treatment options
The following list of medications are in some way related to or used in the
treatment of this condition.

Ÿ Promacta

Ÿ filgrastim

Ÿ Leukine

Ÿ Atgam

Ÿ eltrombopag
What can I do to manage aplastic anemia?
Ÿ Rest as much as possible. Aplastic anemia can cause you to feel more tired
than usual.

Ÿ Avoid people who are sick. The medicines and treatments for aplastic anemia
decrease your ability to fight infection. Try to avoid large groups of people. This
will decrease your chance of getting sick.

Ÿ Wash your hands often. This will help prevent the spread of germs. Encourage
everyone in your house to wash their hands with soap and water after they go to
the bathroom. Also wash hands after changing diapers and before preparing or
eating food.

Ÿ Clean your mouth and gums every day. This will help prevent a mouth
infection. Brush your teeth and rinse your mouth with water at least 2 times each
day. Use a soft bristle toothbrush. Change the water in your denture cup every
day.

Ÿ Avoid doing things that would cause you to bump or cut yourself. Do not
play contact sports such as football or soccer. Use an electric razor to shave. Use
nail clippers or a nail file to keep your nails short and smooth.

Sickle cell Anemia

Sickle cell anemia is one of a group of inherited disorders known as sickle cell
disease. It affects the shape of red blood cells, which carry oxygen to all parts of
the body.

Red blood cells are usually round and flexible, so they move easily through blood
vessels. In sickle cell anemia, some red blood cells are shaped like sickles or
crescent moons. These sickle cells also become rigid and sticky, which can slow
or block blood flow.

There's no cure for most people with sickle cell anemia. Treatments can relieve
pain and help prevent complications associated with the disease.
Symptoms
 Signs and symptoms of sickle cell anemia usually appear around 6 months of
age. They vary from person to person and may change over time. Signs and
symptoms can include:

Ÿ Anemia. Sickle cells break apart easily and die. Red blood cells usually live for
about 120 days before they need to be replaced. But sickle cells typically die in
10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red
blood cells, the body can't get enough oxygen and this causes fatigue.

Ÿ Episodes of pain. Periodic episodes of extreme pain, called pain crises, are a

major symptom of sickle cell anemia. Pain develops when sickle-shaped red
blood cells block blood flow through tiny blood vessels to your chest, abdomen
and joints.

The pain varies in intensity and can last for a few hours to a few days. Some
people have only a few pain crises a year. Others have a dozen or more a year. A
severe pain crisis requires a hospital stay.

Some adolescents and adults with sickle cell anemia also have chronic pain,
which can result from bone and joint damage, ulcers, and other causes.

Ÿ Swelling of hands and feet. The swelling is caused by sickle-shaped red blood

cells blocking blood circulation in the hands and feet.

Ÿ Frequent infections. Sickle cells can damage the spleen, increasing

vulnerability to infections. Infants and children with sickle cell anemia commonly
receive vaccinations and antibiotics to prevent potentially life-threatening
infections, such as pneumonia.

Ÿ Delayed growth or puberty. Red blood cells provide the body with the oxygen
and nutrients needed for growth. A shortage of healthy red blood cells can slow
growth in infants and children and delay puberty in teenagers.

Ÿ Vision problems. Tiny blood vessels that supply the eyes can become plugged
with sickle cells. This can damage the retina — the portion of the eye that
processes visual images — and lead to vision problems.

When to see a doctor

See your health care provider right away if you or your child has symptoms of
sickle cell anemia. Because children with sickle cell anemia are prone to
infections, which often start with a fever and can be life-threatening, seek prompt
medical attention for a fever greater than 101.5 F (38.5 C).
Seek emergency care for symptoms of stroke, which include:
Ÿ One-sided paralysis or weakness in the face, arms or legs

Ÿ Confusion

Ÿ Difficulty walking or talking

Ÿ Sudden vision changes

Ÿ Unexplained numbness

Ÿ Severe headache

Causes
Sickle cell anemia is caused by a change in the gene that tells the body to make
the iron-rich compound in red blood cells called hemoglobin. Hemoglobin enables
red blood cells to carry oxygen from the lungs throughout the body. The
hemoglobin associated with sickle cell anemia causes red blood cells to become
rigid, sticky and misshapen.

For a child to be affected, both mother and father must carry one copy of the
sickle cell gene — also known as sickle cell trait — and pass both copies of the
altered form to the child.

If only one parent passes the sickle cell gene to the child, that child will have the
sickle cell trait. With one typical hemoglobin gene and one altered form of the
gene, people with the sickle cell trait make both typical hemoglobin and sickle cell
hemoglobin.

Their blood might contain some sickle cells, but they generally don't have
symptoms. They're carriers of the disease, however, which means they can pass
the gene to their children.

Risk factors
For a baby to be born with sickle cell anemia, both parents must carry a sickle
cell gene. In the United States, sickle cell anemia most commonly affects people
of African, Mediterranean and Middle Eastern descent.

Complications
Sickle cell anemia can lead to a host of complications, including:
Ÿ Stroke. Sickle cells can block blood flow to an area of the brain. Signs of stroke
include seizures, weakness or numbness of the arms and legs, sudden speech
difficulties, and loss of consciousness. If your child has any of these signs and
symptoms, seek medical treatment immediately. A stroke can be fatal.
Ÿ Acute chest syndrome. A lung infection or sickle cells blocking blood vessels in
the lungs can cause this life-threatening complication, resulting in chest pain,
fever and difficulty breathing. It might require emergency medical treatment.

Ÿ Pulmonary hypertension. People with sickle cell anemia can develop high

blood pressure in their lungs. This complication usually affects adults. Shortness
of breath and fatigue are common symptoms of this condition, which can be fatal.

Ÿ Organ damage. Sickle cells that block blood flow to organs deprive the affected
organs of blood and oxygen. In sickle cell anemia, blood is also chronically low in
oxygen. This lack of oxygen-rich blood can damage nerves and organs, including
kidneys, liver and spleen, and can be fatal.

Ÿ Splenic sequestration. A large number of sickle cells can get trapped in the
spleen, causing it to enlarge and possibly causing belly pain on the left side of the
body. This can be life-threatening. Parents of children with sickle cell anemia
should learn to regularly feel their child's spleen for enlargement.

Ÿ Blindness. Sickle cells can block tiny blood vessels that supply the eyes. Over
time, this can lead to blindness.

Ÿ Leg ulcers. Sickle cell anemia can cause painful open sores on the legs.

Ÿ Gallstones. The breakdown of red blood cells produces a substance called

bilirubin. A high level of bilirubin in the body can lead to gallstones.

Ÿ Priapism. In this condition, men with sickle cell anemia can have painful, long-
lasting erections. Sickle cells can block the blood vessels in the penis, which can
lead to impotence over time.

Ÿ Deep vein thrombosis. Sickling of red cells can cause blood clots, increasing
the risk of a clot lodging in a deep vein (deep vein thrombosis) or a lung
(pulmonary embolism). Either can cause serious illness or even death.

Ÿ Pregnancy complications. Sickle cell anemia can increase the risk of high

blood pressure and blood clots during pregnancy. It can also increase the risk of
miscarriage, premature birth and having low birth weight babies.

Prevention
If you carry the sickle cell trait, seeing a genetic counselor before trying to
conceive can help you understand your risk of having a child with sickle
cell anemia. A genetic counselor can also explain possible treatments, preventive
measures and reproductive options.

Diagnosis
A blood test can check for the form of hemoglobin that underlies sickle cell
anemia. In the United States, this blood test is part of routine newborn screening.
But older children and adults can be tested, too.

In adults, a blood sample is drawn from a vein in the arm. In young children and
babies, the blood sample is usually collected from a finger or heel. The sample is
then sent to a laboratory, where it's screened for the sickle cell form of
hemoglobin.

If you or your child has sickle cell anemia, your doctor might suggest other tests
to check for possible complications of the disease.

If you or your child carries the sickle cell gene, you'll likely be referred to a genetic
counselor.

Assessing stroke risk

A special ultrasound machine can reveal which children have a higher risk of
stroke. This painless test, which uses sound waves to measure blood flow in the
brain, can be used in children as young as 2 years. Regular blood transfusions
can decrease stroke risk.

Tests to detect sickle cell genes before birth

Sickle cell disease can be diagnosed in an unborn baby by sampling some of the
fluid surrounding the baby in the mother's womb (amniotic fluid). If you or your
partner has sickle cell anemia or the sickle cell trait, ask your doctor about this
screening.

Treatment
Management of sickle cell anemia is usually aimed at avoiding pain episodes,
relieving symptoms and preventing complications. Treatments might include
medications and blood transfusions. For some children and teenagers, a stem
cell transplant might cure the disease.

Medications
Ÿ Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea reduces the
frequency of painful crises and might reduce the need for blood transfusions and
hospitalizations. But it can increase the risk of infections. Don't take the drug if
you're pregnant.

Ÿ L-glutamine oral powder (Endari). The FDA recently approved this

 drug for treatment of sickle cell anemia. It helps in reducing the frequency of pain
crises.

Ÿ Crizanlizumab (Adakveo). This drug, given by injection, can help reduce the

frequency of pain crises in adults and children older than 16. Side effects can
include nausea, joint pain, back pain and fever.

Ÿ Voxelotor (Oxbryta). This drug is used to treat sickle cell disease in adults and
children older than 12. Taken orally, this drug can lower the risk of anemia and
improve blood flow throughout the body. Side effects can include headache,
nausea, diarrhea, fatigue, rash and fever.

Ÿ Pain-relieving medications. Your doctor might prescribe narcotics to help

relieve pain during sickle cell pain crises.

Preventing infections
Children with sickle cell anemia might receive penicillin between the ages of
about 2 months old until at least age 5 years. Doing so helps prevent infections,
such as pneumonia, which can be life-threatening to children with sickle cell
anemia.

Adults who have sickle cell anemia might need to take penicillin throughout their
lives if they've had pneumonia or surgery to remove the spleen.

Childhood vaccinations are important for preventing disease in all children.

They're even more important for children with sickle cell anemia because their
infections can be severe.

Your child's doctor should ensure that your child receives all the recommended
childhood vaccinations, as well as vaccines against pneumonia, meningitis,
hepatitis B and an annual flu shot. Vaccines are also important for adults with
sickle cell anemia.

During the COVID 19 pandemic, people with sickle cell anemia should take extra
precautions, such as staying isolated at home as much as possible and for those
who are eligible, getting vaccinated.

Surgical and other procedures

Ÿ Blood transfusions. These are used to treat and prevent complications, such as
stroke, in people with sickle cell disease.

In a red blood cell transfusion, red blood cells are removed from a supply of
donated blood, then given through a vein to a person with sickle cell anemia. This
increases the number of normal red blood cells, which helps reduce symptoms
and complications.
 Risks include an immune response to the donor blood, which can make it hard to
find future donors; infection; and excess iron buildup in your body. Because
excess iron can damage your heart, liver and other organs, you might need
treatment to reduce iron levels if you undergo regular transfusions.

Ÿ Stem cell transplant. Also known as bone marrow transplant, this procedure

involves replacing bone marrow affected by sickle cell anemia with healthy bone
marrow from a donor. The procedure usually uses a matched donor, such as a
sibling, who doesn't have sickle cell anemia.

Because of the risks associated with a bone marrow transplant, including death,
the procedure is recommended only for people, usually children, who have
significant symptoms and complications of sickle cell anemia. A stem cell
transplant is the only known cure for sickle cell anemia.

Clinical trials are ongoing to address stem cell transplantation in adults and gene
therapies.

Lifestyle and home remedies

Taking the following steps to stay healthy might help you avoid complications of
sickle cell anemia:

Ÿ Take folic acid supplements daily and choose a healthy diet. Bone marrow
needs folic acid and other vitamins to make new red blood cells. Ask your doctor
about a folic acid supplement and other vitamins. Eat a variety of colorful fruits
and vegetables, as well as whole grains.

Ÿ Drink plenty of water. Dehydration can increase your risk of a sickle cell crisis.
Drink water throughout your day, aiming for about eight glasses a day. Increase
the amount of water you drink if you exercise or spend time in a hot, dry climate.

Ÿ Avoid temperature extremes. Exposure to extreme heat or cold can increase

your risk of a sickle cell crisis.

Ÿ Exercise regularly, but don't overdo it. Talk with your doctor about how much
exercise is right for you.

Ÿ Use nonprescription medications with caution. Use pain medications, such as

ibuprofen (Advil, Motrin IB, Children's Motrin, others) or naproxen sodium (Aleve),
sparingly, if at all, because of the possible effect on your kidneys. Ask your doctor
before taking nonprescription drugs.

Ÿ Don't smoke. Smoking increases your risk of pain crises.

 Coping and support
If you or someone in your family has sickle cell anemia, you might consider the
following to help you cope:

Ÿ Finding someone to talk with. Living with a chronic illness is stressful. Consider

consulting a mental health professional, such as a psychologist, counselor or
social worker, to help you cope.

Ÿ Join a support group. Ask your health care provider about support groups for
families in your area. Talking with others who are facing challenges similar to
yours can be helpful.

Ÿ Exploring ways to cope with the pain. Work with your health care provider to
find ways to control your pain. Pain medications can't always take all the pain
away. Different techniques work for different people, but it might be worth trying
heating pads, hot baths, massages or physical therapy.

Ÿ Learning about sickle cell anemia to make informed decisions about care. If
you have a child with sickle cell anemia, learn as much as you can about the
disease. Ask questions during your child's appointments. Ask your health care
team to recommend good sources of information.

Thalassemia: Causes, Types, Symptoms,

Treatments and Tests
Introduction to THALASSEMIA
Thalassemia is an inherited blood disorder which is caused when the body does
not make enough hemoglobin. Hemoglobin is the protein molecule found in red
blood cells that carries oxygen. When there is not enough hemoglobin, the red
blood cells won’t be able to function properly.
The disorder results in immoderate destruction of red blood cells, which leads to
anemia. Anemia is a condition in which the body doesn’t have enough normal
and healthy red blood cells.
 Causes of Thalassemia
Thalassemia is inherited, which means one of the parent either father or mother
must be a carrier. It is caused by either a genetic mutation or deletion of certain
gene fragments.
Hemoglobin is made up of different parts mainly called alpha chains and beta
chains. In thalassemia, part of the hemoglobin is faulty- usually either the alpha
chain or the beta chain. As a result, there is not enough normal hemoglobin and
red blood cells that can break down easily.

Types of Thalassemia
There are two types of thalassemia known: Alpha thalassemia and Beta
thalassemia.

Ÿ Alpha thalassemia: Alpha thalassemia occurs if there are problems with some

or all of the alpha-globin genes. Normally, a person has four alpha-globin. Alpha
thalassemia occurs when one or more of the genes are absent or defective.

Ÿ Beta thalassemia: Beta thalassemia occurs when there are problems with one
or both beta-globin genes. This is the most common type of thalassemia. In beta-
thalassemia, there is a decrease in the production of normal adult hemoglobin
(Hb A), which is the predominating type of hemoglobin in our body. People with
beta-thalassemia suffer a low level of hemoglobin leading to a lack of oxygen in
various parts of the body.

Symptoms of Thalassemia
Symptoms of thalassemia depends on the above-mentioned types.

Most common symptoms are:

Ÿ Jaundice and pale skin

Ÿ Drowsiness and fatigue

Ÿ Chest pain

Ÿ Cold hands and feet

Ÿ Shortness of breath

Ÿ Delayed growth
Ÿ Dizziness and faintness

Tests For Thalassemia

 Various laboratory tests may be used to detect thalassemia:

Complete blood count (CBC):

CBC is a measure for the calculation of the cells in the blood. Among other
things, the CBC estimates the number of red blood cells present and how much
hemoglobin is present in them. It shows shape and size of the red blood cells
present, reported as the red cell indices. These include the mean corpuscular
volume (MCV), a measurement of the size of the red blood cells. A low MCV is
often the initial indication of thalassemia. If the MCV is low and iron deficiency
has been shown normal, thalassemia should be considered.

Blood Smear (Called peripheral smear and manual

differential):
In blood smear test, a expert or trained laboratory technician examines a thin
layer of blood that is treated with a specific stain, on a slide and observed under a
high quality microscope. The number and type of white blood cells (WBC), red
blood cells(RBC) and platelets are evaluated to see their conditions whether they
are normal and mature. Thalassemia’s red blood cells generally appear smaller
than normal (microcytic, low MCV). Red cells may also:

Ÿ Be paler than normal (hypochromic)

Ÿ Differ in size and shape (anisocytosis and poikilocytosis)

Ÿ Be nucleated (normal, mature RBCs do not have a nucleus)

Ÿ Have uneven hemoglobin distribution (producing “target cells” that looks like a
bullseye under the microscope)

The greater the percentage of abnormal-looking red blood cells, the greater the
likelihood of an underlying disorder and decreased the ability of the RBCs to
carry oxygen.
Iron studies.
 These may include: Iron, ferritin, unsaturated iron-binding capacity (UIBC), total
iron-binding capacity (TIBC), and percent saturation of transferrin. These tests
estimate different aspects of the body’s iron storage and usage. The tests are
ordered to help determine whether an iron deficiency is the cause of a
person’s anemia. One or more of them may also be ordered to help monitor the
degree of iron overload in an individual with thalassemia.

Ÿ Sometimes alpha thalassemia is confused with iron deficiency anemia because

both disorders have smaller (microcytic) red blood cells than usual. If someone
has thalassemia, his or her iron levels are not expected to be low. Iron therapy
may not help people who are suffering from alpha thalassemia and may lead to
iron overload in the body.

Ÿ Erythrocyte porphyrin tests are useful in distinguishing an unclear beta-

thalassemia minor from lead poisoning and iron deficiency. Individuals having
beta-thalassemia will have normal porphyrin levels but those with the latter
conditions will have elevated porphyrin.

Hemoglobinopathy (Hb) evaluation (hemoglobin

electrophoresis)
This test detects the type and amounts of hemoglobin present in red blood cells.
Hemoglobin A (Hb A), composed of both alpha and beta globin, is the type of
hemoglobin that normally makes up 95% to 98% of hemoglobin in adults.
Hemoglobin A2 (HbA2) is usually 2% to 3% of hemoglobin in adults, while
hemoglobin F usually makes up less than 2%.

Beta thalassemia upsets the distribution of beta and alpha hemoglobin chain
formation and causes an increase in those minor hemoglobin components. So,
people with the beta-thalassemia major usually, have larger percentages of Hb F.
Those people with beta-thalassemia minor usually have raised the fraction of Hb
A2. Hb H is not so a common form of hemoglobin that may be seen in various
cases of alpha thalassemia. Hb S is the hemoglobin more common in people
with sickle cell disease.

Hemoglobinopathy (Hb)
Hemoglobinopathy (Hb) evaluations are used for state-mandated infant
hemoglobin screening and prenatal screening when parents are at threat for
hemoglobin disorders.

DNA Analysis.
These tests are used to help confirm mutations in the alpha and beta globin-
producing genes. DNA testing is not something which is routinely done but it can
be helpful in diagnosis of thalassemia and to determine the status of the carrier, if
indicated.
 Having family members who carry mutations for thalassemia increases a
person’s risk of carrying the same mutant gene, family studies may be done to
evaluate carrier status and the types of mutations present in other family
members if deemed necessary by a healthcare practitioner.

Note: Always consult your physician before any test and treatment.

Thalassemia Treatment
Treatment of thalassemia depends on the type and severity of thalassemia.

Some of the treatments include but are not restricted too:

1. Blood Transfusions: This can be helpful in the replenishment of hemoglobin

and red blood cell levels.

2. Iron chelation: This involves removing excess iron from the bloodstream.

Sometimes blood transfusions can cause iron overload. This can damage the
heart and the other organs.

3. Bone marrow or spleen transplant:

Bone marrow cells produce red and white blood cells, hemoglobin and platelets.
A transplant from a compatible donor may be an effective treatment.

4. Surgery: This may be necessary to correct bone marrow abnormalities.

5. Gene therapy:

Gene therapy is currently an investigating technique to treat thalassemia. One of

the possibilities includes inserting a normal beta-globin gene into the patient’s
bone marrow, or using drugs to reactivate the genes that produce fetal
hemoglobin.

Immune Thrombocytopenic purpura

Thrombocytopenia is a condition in which you have a low blood platelet count.
Platelets (thrombocytes) are colorless blood cells that help blood clot. Platelets
stop bleeding by clumping and forming plugs in blood vessel injuries.
 Thrombocytopenia might occur as a result of a bone marrow disorder such as
leukemia or an immune system problem. Or it can be a side effect of taking
certain medications. It affects both children and adults.

Thrombocytopenia can be mild and cause few signs or symptoms. In rare cases,
the number of platelets can be so low that dangerous internal bleeding occurs.
Treatment options are available.

Symptoms
Thrombocytopenia signs and symptoms may include:

Ÿ Easy or excessive bruising (purpura)

Ÿ Superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-
purple spots (petechiae), usually on the lower legs

Ÿ Prolonged bleeding from cuts

Ÿ Bleeding from your gums or nose

Ÿ Blood in urine or stools

Ÿ Unusually heavy menstrual flows

Ÿ Fatigue

Ÿ Enlarged spleen

When to see a doctor

Make an appointment with your doctor if you have signs of thrombocytopenia that
worry you.
Bleeding that won't stop is a medical emergency. Seek immediate help for
bleeding that can't be controlled by the usual first-aid techniques, such as
applying pressure to the area.

Causes
 Thrombocytopenia means you have fewer than 150,000 platelets per microliter of
circulating blood. Because each platelet lives only about 10 days, your body
normally renews your platelet supply continually by producing new platelets in
your bone marrow.

Thrombocytopenia rarely is inherited; or it can be caused by a number of

medications or conditions. Whatever the cause, circulating platelets are reduced
by one or more of the following processes: trapping of platelets in the spleen,
decreased platelet production or increased destruction of platelets.

Trapped platelets
The spleen is a small organ about the size of your fist situated just below your rib
cage on the left side of your abdomen. Normally, your spleen works to fight
infection and filter unwanted material from your blood. An enlarged spleen —
which can be caused by a number of disorders — can harbor too many platelets,
which decreases the number of platelets in circulation.

Decreased production of platelets

Platelets are produced in your bone marrow. Factors that can decrease platelet
production include:

Ÿ Leukemia and other cancers

Ÿ Some types of anemia

Ÿ Viral infections, such as hepatitis C or HIV

Ÿ Chemotherapy drugs and radiation therapy

Ÿ Heavy alcohol consumption

Increased breakdown of platelets
Some conditions can cause your body to use up or destroy platelets faster than
they're produced, leading to a shortage of platelets in your bloodstream.
Examples of such conditions include:
Ÿ Pregnancy. Thrombocytopenia caused by pregnancy is usually mild and
improves soon after childbirth.

Ÿ Immune thrombocytopenia. Autoimmune diseases, such as lupus and

rheumatoid arthritis, cause this type. The body's immune system mistakenly
attacks and destroys platelets. If the exact cause of this condition isn't known, it's
called idiopathic thrombocytopenic purpura. This type more often affects children.

Ÿ Bacteria in the blood. Severe bacterial infections involving the blood

(bacteremia) can destroy platelets.

Ÿ Thrombotic thrombocytopenic purpura. This is a rare condition that occurs

when small blood clots suddenly form throughout your body, using up large
numbers of platelets.

Ÿ Hemolytic uremic syndrome. This rare disorder causes a sharp drop in

platelets, destruction of red blood cells and impairs kidney function.

Ÿ Medications. Certain medications can reduce the number of platelets in your

blood. Sometimes a drug confuses the immune system and causes it to destroy
platelets. Examples include heparin, quinine, sulfa-containing antibiotics and
anticonvulsants.

Complications
Dangerous internal bleeding can occur when your platelet count falls below
10,000 platelets per microliter. Though rare, severe thrombocytopenia can cause
bleeding into the brain, which can be fatal.

HAEMOPHILIA

What is hemophilia?
Hemophilia is a rare, inherited blood disorder that causes your blood to clot less,
which results in an increased risk of bleeding or bruising.

Hemophilia happens because your body doesn’t make enough protein (clotting
factors) to help your blood form clots. Clotting factors are proteins in your blood.
They work with your platelets to form blood clots that control bleeding. Low
clotting factor levels increase bleeding risk.

There are several types of hemophilia. Hemophilia may be severe, moderate or

mild based on the amount of clotting factor in your blood.

Healthcare providers treat this condition by replacing the missing clotting

 factor. There isn’t a cure for hemophilia, but people who receive treatment
generally live nearly as long as people who don’t have hemophilia. Providers are
researching gene therapy and gene replacement therapy as new ways to treat
and possibly cure hemophilia.

Can people develop hemophilia?

Yes, but that rarely happens. Acquired hemophilia, or hemophilia that isn’t
inherited, develops when autoantibodies start to attack a specific clotting factor.
(Antibodies are protective proteins your immune system makes. Autoantibodies
attack antibodies, essentially attacking your body’s own cells, tissues and
proteins.)

Is hemophilia a common disease?

No, it’s not. According to the U.S. Centers for Disease Control and Prevention
(CDC) in August 2022, about 33,000 people in the U.S. have hemophilia.
Hemophilia typically affects men and people assigned male at birth (AMAB).
Rarely, women and people assigned female at birth (AFAB) may have clotting
factor levels that are so low that they develop symptoms such as having very
heavy periods.

What are hemophilia types?

There are three types of hemophilia:

Ÿ Hemophilia A: This is the most common type of hemophilia. It happens when

you don’t have enough clotting factor 8 (factor VIII). The CDC estimates about 10
in 100,000 people have hemophilia A.

Ÿ Hemophilia B: Hemophilia B happens when you don’t have enough clotting

factor 9 (factor IX.) The CDC estimates about 3 in 100,000 people in the U.S.
have hemophilia B.

Ÿ Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency.

This hemophilia type is very rare, affecting 1 in 100,000 people.

Is hemophilia a serious illness?

It can be. People with severe hemophilia may develop life-threatening bleeding,
but they’re more likely to develop bleeding in their muscles and joints.

SYMPTOMS AND CAUSES

What are hemophilia symptoms?
The most significant symptom is unusual or excessive bleeding or
 bruising.

Ÿ People with hemophilia may develop large bruises after minor injuries. This is a

sign of bleeding under their skin.

Ÿ They may bleed for an unusually long time, whether that’s bleeding after surgery,
bleeding after dental treatment or simply bleeding from a cut finger.

Ÿ They may start bleeding for no apparent reason, such as sudden bloody noses.

How much bruising or bleeding people have depends on whether they have
severe, moderate or mild hemophilia:

Ÿ People with severe hemophilia often have spontaneous bleeding or bleeding for
no apparent reason.

Ÿ People with moderate hemophilia who have serious injuries may bleed for an
unusually long time.

Ÿ People with mild hemophilia may have unusual bleeding, but only after major
surgery or injury.

Other symptoms may include:

Ÿ Joint pain from internal bleeding. Joints in your ankles, knees, hips and
shoulders may ache, swell or feel hot to the touch.

Ÿ Bleeding into your brain. People with severe hemophilia very rarely develop
life-threatening bleeding into their brains. Brain bleeds may cause persistent
headaches, double vision or make you feel very sleepy. If you have hemophilia
and have these symptoms, get help right away.

What are hemophilia symptoms in babies and children?

Sometimes, babies assigned male at birth with hemophilia are diagnosed
because they bleed more than usual after being circumcised. Other times,
children develop symptoms a few months after they’re born. Common symptoms
include:

Ÿ Bleeding: Babies and toddlers may bleed from their mouths after minor injuries,
like bumping their mouths on a toy.

Ÿ Swollen lumps on their heads: Babies and toddlers who bump their heads
often develop goose eggs — large round lumps on their heads.
Ÿ Fussiness, irritability or refusal to crawl or walk: These symptoms may
happen if babies and toddlers have internal bleeding into a
 muscle or joint. They may have areas on their bodies that look bruised and
swollen, feel warm to your touch or make your child hurt when you gently touch
the area.

Ÿ Hematomas: A hematoma is a mass of congealed blood that gathers under

babies’ or toddlers’ skin. Babies and toddlers may develop hematomas after
receiving an injection.

What causes hemophilia?

Certain genes create clotting factors. In inherited hemophilia, the genes carrying
instructions for making normal clotting factors mutate or change. The mutated
genes may give instructions that end up making abnormal clotting factors or not
enough clotting factors. That said, about 20% of all hemophilia cases are
spontaneous, meaning someone has the disease even though there’s no family
history of abnormal bleeding.

How do people inherit hemophilia?

Hemophilia A and B are both sex-linked disorders that are inherited in an X-linked
recessive manner. Here’s how that happens:

Ÿ Everyone receives one set of chromosomes from their biological mother and one
set of chromosomes from their biological father. If you get an X chromosome from
your mother and an X chromosome from your father, you are assigned female at
birth. If you get an X chromosome from your mother and a Y chromosome from
your father, you are assigned male at birth. In other words, a mother will always
pass an X chromosome to her offspring. The father will determine the assigned
sex at birth by providing either an X or a Y chromosome.

Ÿ If a woman has an abnormal factor gene on one of their X chromosomes, they

carry hemophilia but may not have symptoms. That’s because there’s a normal
factor gene on their second X chromosome.

Ÿ If a woman who carries an X chromosome with a defective gene for producing

factor 8 (or factor 9) has a male child, that child has a 50% chance of inheriting
the X chromosome that carries the abnormal factor gene.

Ÿ If that same woman has a female child, that child has a 50% chance of inheriting
the faulty chromosome and abnormal factor gene. That child likely wouldn’t have
symptoms because they’ll also inherit a normal X chromosome from their father.

Ÿ In other words, a woman who inherits a faulty X chromosome and abnormal

factor gene will carry hemophilia. They may not have symptoms, but they can
pass the condition on to their children. There’s a 50% chance that any children
they have — boys or girls —
 will inherit hemophilia. Boys who do inherit hemophilia are more likely to have
severe symptoms. That’s because they don’t get a healthy X chromosome from
their father.

Do women ever develop hemophilia symptoms?

They can, but those symptoms tend to be mild. For example, a woman carrying
the hemophilia gene may not have the normal clotting factors or not enough
clotting factors. When that happens, they may have unusually heavy menstrual
periods and they may bruise easily. They may bleed more after childbirth and
they may develop joint problems if they have internal bleeding into their joints.

DIAGNOSIS AND TESTS

How do healthcare providers diagnose hemophilia?
A healthcare provider will start by doing a complete history and physical
examination. If you have hemophilia symptoms, the provider will ask about your
family’s medical history. Providers may do the following tests:

Ÿ Complete blood count (CBC): Providers use this test to measure and study
blood cells.

Ÿ Prothrombin time (PT) test: Providers use this test to see how quickly your
blood clots.

Ÿ Activated partial thromboplastin time test: This is another blood test to time
blood clot formation.

Ÿ Specific clotting factor test(s): This blood test show levels of specific clotting
factor levels (such as factor 8 and factor 9).

What are clotting factor levels?

Clotting factors help control bleeding. Healthcare providers categorize hemophilia
as being mild, moderate or severe based on the amount of clotting factors in your
blood:

Ÿ People who have 5% to 30% of the normal amount of clotting factors in their
blood have mild hemophilia.

Ÿ People with 1% to 5% of the normal level of clotting factors have moderate

hemophilia.
Ÿ People with less than 1% of the normal clotting factors have severe hemophilia.
MANAGEMENT AND TREATMENT
How do healthcare providers treat hemophilia?
They treat hemophilia by boosting clotting factor levels or replacing missing
clotting factors (replacement therapy).

In replacement therapy, you receive human plasma concentrates or lab-made

(recombinant) clotting factors. In general, only people with severe hemophilia
need regular replacement therapy. People with mild or moderate hemophilia who
need surgery may receive replacement therapy. They may also receive
antifibrinolytics, a medication that keeps blood clots from breaking down.

Blood factor concentrates are made from donated human blood that’s been
treated and screened to reduce the risk of transmitting infectious diseases, such
as hepatitis and HIV. People receive replacement factors via intravenous infusion
(IV).

If you have severe hemophilia and frequent bleeding episodes, your healthcare
provider may prescribe prophylactic factor infusions to prevent bleeding.

What are treatment complications?

Some people who have replacement therapy develop antibodies, called
inhibitors, which attack the clotting factors that control bleeding. Healthcare
providers use a technique called immune tolerance induction (ITI). ITI involves
clotting factors given on a daily basis to bring down inhibitor levels. ITI may be a
long-term treatment, and some people may need this treatment for months or
years.

PREVENTION
Can people prevent hemophilia?
No, they can’t. If you have hemophilia and have children, your healthcare
provider may recommend genetic testing so you and your children know whether
they might pass hemophilia on to their children.

OUTLOOK / PROGNOSIS
What can I expect if I have hemophilia?
If you have hemophilia, you’ll need medical treatment for the rest of your life. How
much treatment you’ll need depends on your condition type, severity and if you
develop inhibitors.
 What is the lifespan expectancy for someone with
hemophilia?
According to 2012 data from the World Federation of Hemophilia, the lifespan for
men and people AMAB with hemophilia is about 10 years fewer than the lifespan
for men/people AMAB without hemophilia. The federation also states that children
diagnosed with and treated for hemophilia have a normal life expectancy.

But everyone is different. What’s true for one person with hemophilia may not be
true for others. If you or your child has hemophilia, ask your provider what you
can expect. They know your/your child’s situation, including overall health, and
they’re your best resource for information.

LIVING WITH
How do I take care of myself?
People with hemophilia may need ongoing medical treatment to prevent bleeding.
They may need to avoid certain activities and medications. But there are many
things you can do to manage the impact hemophilia may have on the quality of
your life.

Activities to avoid
Bumps, falls and hard knocks that other people shake off may be serious issues
for people with hemophilia. They may need to avoid activities that increase their
risk of being hit or falling down after being hit. Examples include:

Ÿ Playing football, hockey or rugby.

Ÿ Participating in boxing or wrestling.

Ÿ Riding motorcycles.

Ÿ Riding skateboards.

Participating in other sports such as soccer, basketball and baseball may

increase your risk of injuries. Ask your healthcare provider what you can do, like
using protective gear, so you can play these sports.

Medications to avoid
Pain medications like aspirin, ibuprofen and naproxen keep your blood from
clotting well. You should also avoid anticoagulants such as heparin or warfarin.

Activities and actions to improve quality of life

 There are many things you can do to limit the impact hemophilia may have on
your quality of life:

Ÿ Develop an exercise routine: You may worry about hurting yourself during
exercise. Talk to your provider about ways to reduce the risk of bleeding while
staying active.

Ÿ Manage your stress: Hemophilia is a lifelong illness. It may take extra effort to
balance your obligations to your family and work.

Ÿ Have good dental hygiene: Brushing, flossing and regular visits to your dentist
reduce the risk that you’ll need dental treatment that may cause bleeding. Be
sure your dentist knows about your medical condition.

Ÿ Aim for a weight that’s healthy for you: Managing your weight may help if
you’re having trouble getting around because internal bleeding damaged your
joints.

Ÿ Educate those around you: If you have a severe form of hemophilia, you may
have spontaneous bleeding that’s hard to control even if you’re taking
medication. Make sure your family knows what to do if you have spontaneous
bleeding. If your child has hemophilia, make sure care providers and school
officials know what to do if your child has bleeding issues.

When should I see my healthcare provider?

Contact your healthcare provider if you notice changes in your body, like
increased bleeding or bruising.

When should I go to the emergency room?

You should go to the emergency room if:

Ÿ You have severe headaches or double vision. These symptoms may mean you
have bleeding in your brain.

Ÿ You have joint swelling and/or pain and you don’t have access to factor
replacement medication.

What questions should I ask my healthcare provider?

If you or your child is diagnosed with hemophilia, you may want to ask your
provider some of the following questions:
Ÿ What type of hemophilia do I/does my child have?
Ÿ What treatments do you recommend?

Ÿ What are treatment side effects?

Ÿ Will I/my child always need treatment?

Ÿ What activities will I/my child need to avoid?

Ÿ What medications will I/my child need to avoid?

Ÿ What are things I can do to manage the impact this condition may have on my/my
child’s life?

Leukaemia

What is leukaemia?
Leukaemia is cancer that affects the white blood
cells (lymphocytes). It affects the blood and bone marrow, where
blood cells are made. Leukaemia may be acute, appearing fast and
growing quickly, or chronic, appearing gradually and growing slowly.

Although the cause of leukaemia is not known in most cases, there

are treatments that can help manage the disease. Acute leukaemia
can be cured. There is no cure for chronic leukaemia, but it can
often be managed by lifelong treatments.

What are the types of leukaemia?

The types of leukaemia are named according to the:

Ÿ type of white blood cells affected (‘lymphoid’ if from the lymphatic

system, or ‘myeloid’ if from the bone marrow)

Ÿ how quickly the cancer cells grow (‘acute’ if fast; ‘chronic’ if slow)
 The 4 main types of leukaemia are:

Ÿ Acute lymphoblastic leukaemia (ALL), also called acute

 lymphocytic leukaemia — the most common type of leukaemia in
children, and can also affect adults.

Ÿ Acute myeloid leukaemia (AML), sometimes called acute

myelocytic, myelogenous or granulocytic leukaemia — can occur at
any age, although it tends to affect older people.

Ÿ Chronic lymphocytic leukaemia (CLL) — the most common type

of leukaemia in adults. CLL tends to be slow-growing and may have
little impact on a person’s health for months or even years.

Ÿ Chronic myeloid leukaemia (CML) — tends to progress over

weeks or months. CML mostly affects adults over 40 and is rare in
children.

What are the symptoms of leukaemia?

The symptoms of leukaemia depend on how many abnormal white
blood cells are in the body and where they collect.

In cases of acute leukaemia, abnormal white blood cells multiply

rapidly and spill out from the bone marrow into the bloodstream,
crowding out healthy blood cells, which can no longer do their job
properly.

In chronic leukaemia, abnormal white blood cells fail to die, and

slowly build up in the bloodstream, bone marrow and other organs.

A lack of healthy blood cells can lead to a range of problems.

Symptoms of acute leukaemia

Some of the more common symptoms of acute leukaemia include:

Ÿ anaemia, causing paleness, weakness, breathlessness and

tiredness
Ÿ repeated infections, for example mouth sores, infected
 cuts and scratches

Ÿ unexplained bruising and bleeding

Ÿ bone or joint pain

Less common symptoms of acute leukaemia include:

Ÿ chest pain

Ÿ painful or swollen gums

Ÿ skin rashes

Ÿ headaches or eyesight problems

Ÿ vomiting

Symptoms of chronic leukaemia

The symptoms of chronic leukaemia can develop over months or
years. It develops so slowly that many people with chronic
leukaemia don’t know they have the condition, especially in the
early stages. Some people with chronic leukaemia only find out they
have the disease when they have a routine blood test.

The symptoms of chronic leukaemia are similar to that of acute

leukaemia, as well as:

Ÿ pain or discomfort under the ribs on the left side, due to an enlarged
spleen

Ÿ painless swelling of the lymph glands

Ÿ excessive sweating at night

Ÿ unintentional weight loss

What causes leukaemia?
Doctors are not sure what causes leukaemia. It is likely that
abnormal genes play a part. CML is often caused by an abnormal
chromosome. It is also likely that a person's chances of getting
leukaemia are affected by where they live, where they work, what
they eat and more.

In ALL, it's thought that the response of the immune system to

certain infections may cause the condition to develop in some
people.

On rare occasions, a stem cell transplant might be used. This is

usually only an option in young people with aggressive CLL,
because of the risks associated with this type of treatment.

What are the side effects of treatment?

Leukaemia treatments can cause unwanted side effects. For
example, chemotherapy can cause nausea and vomiting, tiredness,
hair loss, diarrhoea, constipation and a sore mouth.

Interferon can cause flu-like symptoms and other effects like loss of
appetite and muscle pain, while retinoic acid can cause headaches,
dry skin, dry mouth and bone pain.

Stem cell transplants can also cause unwanted effects, ranging

from easy bruising and bleeding, to weakness and mouth infections.

Treatments can be given to reduce the impact of most of these side

effects.

Palliative care
Palliative care aims to help control your symptoms and improve
your quality of life. It does not mean that your medical team has
given up on other treatments. Also known as supportive care,
palliative care is sometimes given at the same time as you are
receiving other treatments, such as chemotherapy, and in some
cases it may be offered from the time of diagnosis.
 Can leukaemia be prevented?
You can lower your risk of getting any cancer by eating well,
exercising regularly, giving up smoking and cutting back on alcohol.
But in many cases, there is no known way to prevent leukaemia.

Are there complications of leukaemia

treatment?
A potential complication of chemotherapy for leukaemia is tumour
lysis syndrome, which occurs when the large number of leukaemia
cells break open and release their contents into the bloodstream.

This can overwhelm the kidneys, leading to a number of serious

problems. Extra fluids and certain medicines may be given to avoid
this syndrome.

Some types of chemotherapy may cause a temporary or permanent

reduction in fertility. It is important to discuss any questions you
might have about fertility with your doctor.

Resources and support

For more information and support, try these resources:

Ÿ Visit the Leukaemia Foundation’s website for a wide range of

information about leukaemia, including about practical and
emotional support and referral services.

Ÿ Call 1800 620 420 to arrange to talk to a Blood Cancer Support

Coordinator at the Leukaemia Foundation.

Ÿ Call the Cancer Council on 13 11 20 for information about

leukaemia and support.

Ÿ Visit the Cancer Council’s website for information about leukaemia

symptoms, diagnosis and treatment.