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Thalassemia

Definition
Thalassemia — also called Mediterranean anemia — is an inherited blood disorder
characterized by less hemoglobin and fewer red blood cells in your body than
normal. Defects in the genes that make hemoglobin cause thalassemia. Hemoglobin is
the substance in red blood cells that allows the cells to carry oxygen from your
lungs to the other parts of your body. Because of low hemoglobin and a low amount
of red blood cells, thalassemia results in anemia. If you have a mild form of
thalassemia, you may not require any treatment. But, if you have a more severe
form, you may need blood transfusions on a regular basis. Although in some cases
severe thalassemia can be life-threatening, milder forms of thalassemia usually
can be effectively treated. Although thalassemia causes anemia, don't confuse
thalassemia with iron deficiency anemia. People with thalassemia often have more
iron in their bodies than they need. For this reason, if you have thalassemia,
don't take iron supplements unless your doctor recommends it.

Symptoms
Signs and symptoms of thalassemia include:
       

Fatigue Weakness Shortness of breath Yellow discoloration of the skin (jaundice)


Bone deformities in the face Slow growth Protruding abdomen Dark urine

The signs and symptoms you experience depend on your type and severity of
thalassemia. Some babies show signs and symptoms of thalassemia at birth, while
others may not develop signs or symptoms until they're about 6 to 12 months old.
Some people who have only one hemoglobin gene affected don't experience any
thalassemia symptoms.

Causes
Blood consists of liquid, called plasma, and three types of cells that float
within the plasma:
 

White blood cells. These blood cells fight infection. Platelets. These blood cells
help your blood clot after a cut.

Red blood cells (erythrocytes). These blood cells carry oxygen from your lungs,
through your bloodstream, to your brain and your body's other organs and tissues.
Your body needs a supply of oxygenated blood to function. Oxygenated blood helps
give your body its energy and your skin a healthy glow.

Red blood cells contain hemoglobin — a red, iron-rich protein that gives blood its
red color. Hemoglobin enables red blood cells to carry oxygen from your lungs to
all parts of your body and to carry carbon dioxide from other parts of your body
to your lungs so that it can be exhaled. Most blood cells, including red blood
cells, are produced regularly in your bone marrow — a red, spongy material found
within the cavities of many of your large bones. Thalassemia disrupts the normal
production of hemoglobin and leads to a low level of hemoglobin and a high rate of
red blood cell destruction, causing anemia. When you're anemic, your blood doesn't
have enough red blood cells to carry oxygen to your tissues — leaving you
fatigued. Thalassemia is caused by defects in the genes that make hemoglobin. The
only way to get thalassemia is to inherit one or more defective hemoglobin genes
from your parents. There are two types of thalassemia: alpha and beta, named for
the two protein chains that make up normal hemoglobin. The type of thalassemia you
have depends on the type of defective gene you inherit. Alpha-thalassemia Four
genes are involved in making the alpha hemoglobin chain. You get two from each of
your parents. If one or more of the alpha hemoglobin genes are defective, you
develop alpha-thalassemia. The more defective genes you have, the more severe your
alpha-thalassemia:

One gene. If only one of your alpha hemoglobin genes is defective, you'll have no
signs or symptoms of thalassemia. But, you're a carrier of the disease and can
pass it on to your children. Two genes. If you have two defective alpha hemoglobin
genes, thalassemia signs and symptoms are mild. This condition is called alpha-
thalassemia minor. Three genes. If three of your alpha hemoglobin genes are
defective, your signs and symptoms will be moderate to severe. This condition is
also called hemoglobin H disease. Four genes. When all four alpha hemoglobin genes
are defective, the condition is called alpha-thalassemia major or hydrops fetalis.
It usually causes a fetus to die before delivery or shortly after birth.

Beta-thalassemia Two genes are involved in making the beta hemoglobin chain. You
get one from each of your parents. If one or both of the beta hemoglobin genes are
defective, you develop beta-thalassemia.
 

One gene. If one of your beta hemoglobin genes is defective, you have mild signs
and symptoms. This condition is called beta-thalassemia minor. Two genes. If both
of your beta hemoglobin genes are defective, your signs and symptoms will be
moderate to severe. This condition is called betathalassemia major or Cooley's
anemia. Babies born with two defective beta hemoglobin genes usually are healthy
at birth, but develop signs and symptoms within the first year of life.

Risk factors
Factors that increase your risk of thalassemia include:
 

Family history. Thalassemia is an inherited disorder, passed from parents to


children through defective hemoglobin genes. Ancestry. Thalassemia occurs most
often in people of Italian, Greek, Middle Eastern, southern Asian and African
ancestry. Alpha-thalassemia affects mainly people of Southeast Asian, Chinese and
Filipino descent.

When to seek medical advice


Make an appointment with your child's health care provider for an evaluation if he
or she has any of the following signs or symptoms of thalassemia:
       

Fatigue Weakness Shortness of breath Yellow discoloration of the skin (jaundice)


Bone deformities in the face Slow growth Protruding abdomen Dark urine

Tests and diagnosis


Most children who have moderate to severe cases of thalassemia show signs and
symptoms within their first two years of life. If your doctor suspects your child
has thalassemia, he or she may confirm a diagnosis using blood tests. If your
child has thalassemia, blood tests may reveal a low level of red blood cells. The
red blood cells may be smaller than normal, pale (a sign of low hemoglobin),
varied in size and shape, and have uneven hemoglobin distribution — giving the
cells a bull's-eye appearance under the microscope. Blood tests may also be used
to measure the amount of iron in your child's blood and to evaluate his or her
hemoglobin. In some cases, a blood test may be used for DNA analysis to diagnose
thalassemia or to determine if a person is carrying defective hemoglobin genes.
Prenatal testing Testing can be done before a baby is born to find out if he or
she has thalassemia and determine how severe it may be. Tests used to diagnose
thalassemia in unborn babies include:
 

Chorionic villi sampling. This test is usually done around the 11th week of
pregnancy and involves removing a tiny piece of the placenta for evaluation.
Amniocentesis. This test is usually done around the 16th week of pregnancy and
involves taking a sample of the fluid that surrounds the baby.

Assisted reproductive technology A form of assisted reproductive technology that


combines pre-implantation genetic diagnosis with in vitro fertilization may help
parents who have thalassemia or who are carriers of a defective hemoglobin gene
give birth to healthy babies. The procedure involves retrieving mature eggs from a
woman and fertilizing them with a man's sperm in a dish in a laboratory. The
embryos are tested for the defective genes and only those without genetic defects
are implanted in the woman.

Complications
Possible complications of thalassemia include:

Iron overload. People with thalassemia can get too much iron in their bodies,
either from the disease itself or from frequent blood transfusions. Too much iron
can result in damage to your heart, liver and endocrine system, which includes
glands that produce hormones that regulate processes throughout your body.
Infection. Thalassemia increases your risk of developing a blood-borne infection,
such as hepatitis, which is a virus that can damage your liver.

In cases of severe thalassemia, the following complications can occur:


Bone deformities. Thalassemia can make your bone marrow expand, which causes your
bones to widen. This can result in abnormal bone structure, especially in your
face and skull. Bone marrow expansion also makes bones thin and brittle,
increasing the chance of broken bones, particularly in your spine. Spine factures
can result in compression of your spinal cord. Enlarged spleen (splenomegaly). The
spleen helps your body fight infection and filter unwanted material, such as old
or damaged blood cells. Thalassemia often destroys a large number of red blood
cells, making your spleen work harder than normal, which causes it to enlarge.
Splenomegaly can make anemia worse, and it can reduce the life of transfused red
blood cells. If your spleen becomes too large, it may need to be removed. Slowed
growth rates. Anemia can cause a child's growth to slow. Children with severe
thalassemia rarely reach a normal adult height. Due to endocrine problems, puberty
may also be delayed in these children. Heart problems. Heart problems, such as
congestive heart failure and abnormal heart rhythms (arrhythmias), may be
associated with severe thalassemia.
Treatments and drugs
Treatment for thalassemia depends on which type you have and how severe it is.
Thalassemia minor (alpha or beta) Signs and symptoms are usually mild with
thalassemia minor and little, if any, treatment is needed. Occasionally, you may
need a blood transfusion, particularly after surgery, after having a baby or if
you develop an infection. Beta-thalassemia major (Cooley's anemia) or hemoglobin H
disease These more severe forms of thalassemia often require frequent blood
transfusions. Over time, blood transfusions cause a buildup of iron in your blood,
which can damage your heart, liver and other organs. To help your body get rid of
the extra iron, you may need to take medications known as "iron chelators." These
medications may be given as a pill or as an infusion under your skin. In some
cases, a bone marrow transplant or a stem cell transplant may be used to treat
severe thalassemia.

Prevention
In most cases, thalassemia cannot be prevented. If you have thalassemia, or if you
carry a thalassemia gene, consider talking with a genetic counselor for guidance
before you have a child.

Lifestyle and home remedies


If you have thalassemia, be sure to:
 

Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other
supplements that contain iron. Eat a healthy diet. Eating a well-balanced diet
that contains plenty of nutritious foods can help you feel better and boost your
energy. Your doctor may also recommend you take a folic acid supplement to help
your body make new red blood cells. Avoid infections. Protect yourself from
infections with frequent hand washing and by avoiding sick people. You should also
get a flu shot every year and the pneumoccoccal vaccine to prevent infections. If
you develop a fever or other signs and symptoms of an infection, see your doctor
for treatment.

Coping and support


Coping with thalassemia can be challenging. But, you don't have to do it alone. If
you have questions or would like guidance, talk with a member of your health care
team. You may also benefit from joining a support group. Such a group can provide
both sympathetic listening and useful information. To find out about support
groups in your area that deal with thalassemia, ask your doctor.

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