WHAT IS THALASSEMIA?

Thalassemia is an inherited blood disorder that causes mild or severe Anemia . The anemia is due to reduced hemoglobin and fewer red blood cells than normal. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.

In people with thalassemia, the genes that code for hemoglobin are missing or variant (different than the normal genes). Severe forms of thalassemia are usually diagnosed in early childhood and are lifelong conditions.

The two main types of thalassemia

alpha and beta, are named for the two protein chains that make up normal hemoglobin. The genes for each type of thalassemia are passed from parents to their children. Alpha and beta thalassemias have both mild and severe forms.

 Thalassemia is always inherited (passed from parents to children). People with moderate to severe forms of thalassemia received variant genes from both parents. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children.

Alpha Thalassemia
Four genes are involved in making the alpha globin part of hemoglobintwo from each parent. Alpha thalassemia occurs when one or more of these genes is variant or missing. People with only one gene affected are called silent carriers and have no sign of illness. People with two genes affected (called alpha thalassemia trait, or alpha thalassemia minor) have mild anemia and are considered carriers.

 People with three genes affected have moderate to severe anemia, or hemoglobin H disease. Babies with all four genes affected (a condition called alpha thalassemia major, or hydrops fetalis) usually die before or shortly after birth. If two people with alpha thalassemia trait (carriers) have a child, the baby could have a mild or severe form of alpha thalassemia or could be healthy.

 If both genes are variant, a person may have moderate anemia (beta thalassemia intermedia, or mild Cooleys anemia) or severe anemia (beta thalassemia major, or Cooleys anemia). Cooleys anemia, or beta thalassemia major, is a rare condition.

Who Is At Risk for Thalassemia?

1. Thalassemia is passed from parents to children through their genes. 2. Thalassemia affects both males and females. 3. Beta thalassemias affect people of Mediterranean origin or ancestry (Greek, Italian, Middle Eastern) and people of Asian and African descent. 4. Alpha thalassemias mostly affect people of Southeast Asian, Indian, Chinese, or Filipino origin or ancestry.

What Are the Signs and Symptoms of Thalassemia?

The symptoms of thalassemia depend on the type and severity of the disease. Symptoms occur when not enough oxygen gets to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood (anemia).

1. Fatigue (feeling tired) and weakness 2. Pale skin or jaundice (yellowing of the skin) 3. Protruding abdomen, with enlarged spleen and liver 4. Dark urine 5. Abnormal facial bones and poor growth

Diagnosis
1. Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies. 2. People with thalassemia have fewer red blood cells than normal and less hemoglobin than normal in their blood. Carriers of the trait may have slightly small red blood cells as their only sign. 3. Hemoglobin studies measure the types of hemoglobin in a blood sample.

Cooleys anemia
is usually diagnosed in early childhood because of signs and symptoms, including severe anemia. Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia.

Treatment
Treatment for thalassemia depends on the type and severity of the disease. People who are carriers (they have thalassemia trait) usually have no symptoms and need no treatment. Those with moderate forms of thalassemia (for example, thalassemia intermedia) may need blood transfusions.

1. Those with severe thalassemia have a serious and life-threatening illness. 2. They are treated with regular blood transfusions, iron chelation (ke-LAY-shun) therapy, and bone marrow transplants. Without treatment, children with severe thalassemia do not live beyond early childhood. 3. People with severe thalassemia who are able to continue therapy successfully may live into their thirties, forties, and beyond.

1. Blood Transfusions
Severe forms of thalassemia are treated by regular blood transfusions. A blood transfusion, given through a needle in a vein, provides blood containing normal red blood cells from healthy donors. In thalassemia treatment, blood transfusions are done on a schedule (often every 24 weeks) to keep hemoglobin levels and red blood cell numbers at normal levels. Transfusion therapy can allow a person with severe thalassemia to feel better, enjoy normal activities, and live longer.

2-Iron Chelation Therapy

Iron chelation therapy uses medicine to remove the excess iron that builds up in the body when a person has frequent blood transfusions. If the iron is not removed, it damages body organs, such as the heart and liver.

 The medicine, deferoxamine (deh-ferROX-uh-meen), works best when given slowly under the skin, usually with a small portable pump overnight. This therapy is demanding and sometimes is mildly painful, so some people stop chelation therapy. People who have iron overload should not take vitamins or other supplements that contain iron.

3-Surgery
Surgery may be needed if body organs, such as the spleen or gall bladder, are affected. For example, if the spleen becomes inflamed and enlarged, it may be removed. If gallstones develop, the gall bladder may be removed.

A-Bone Marrow or Stem Cell Transplants

Bone marrow or stem cell transplants have been used successfully in some children with severe thalassemia. This is a risky procedure, but it offers a cure for those children who qualify.

4-Other Treatments
People with severe thalassemia are more likely to get infections that can worsen their anemia. They should get an annual flu shot and the pneumonia vaccine to help prevent infections. Folic acid is a B vitamin that helps build red blood cells. People with thalassemia should take folic acid supplements.

5-Gene therapy
Someday, it may be possible to cure thalassemia in an unborn child by inserting a normal gene into the childs stem cells.

6-Fetal hemoglobin
Fetal hemoglobin is the type of hemoglobin made by the body before birth. After birth, the body usually switches from making fetal hemoglobin to the adult form of hemoglobin. Some children have a gene variant that prevents the switch, and their continuing production of fetal hemoglobin lessens the severity of their illness.

How Can Thalassemia Be Prevented?

Although thalassemia cannot be prevented, it can be identified before birth by prenatal diagnosis. People who have or believe that they may carry the thalassemia genes can receive genetic counseling to avoid passing the disorder to their children.