How Is Thalassemia Treated?

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 occasionally, such as when they are experiencing stress due to an infection. If a person with thalassemia intermedia worsens and needs regular transfusions, he or she is no longer considered to have thalassemia intermedia; instead, the person is said to have thalassemia major, or Cooley’s anemia.
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• Those with severe thalassemia have a serious and life-threatening illness. 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. People with severe thalassemia who are able to continue therapy successfully may live into their thirties, forties, and beyond.

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 2–4 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.

Transfusion therapy, while lifesaving, is expensive and carries a risk of transmitting viral and bacterial diseases (for example, hepatitis). Transfusion also leads to excess iron in the blood (iron overload), which can damage the liver, heart, and other parts of the body. To prevent damage, iron chelation therapy is needed to remove excess iron from the body.

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-fer-ROX-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. A pill form of iron chelation therapy, deferasirox, was approved in November 2005 for use in the United States.

People who have iron overload should not take vitamins or other supplements that contain iron.

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.

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.

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.

Researchers are also studying other treatments, such as gene therapy and fetal hemoglobin.

Gene therapy

Someday, it may be possible to cure thalassemia in an unborn child by inserting a normal gene into the child’s stem cells.

Fetal hemoglobin

Researchers are studying ways to enhance production of fetal hemoglobin in people with thalassemia. 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. Researchers are testing ways to enhance fetal hemoglobin production after birth.