How Are Thalassemias Treated?

Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. They need little or no treatment.

Doctors use three standard treatments for moderate and severe forms of thalassemia. These include blood transfusions, iron chelation (ke-LAY-shun) therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they're used much less often.

Standard Treatments

Blood Transfusions

Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. A blood transfusion, given through a needle in a vein, gives you healthy red blood cells with normal hemoglobin. Red blood cells live for only about 120 days. So, you may need repeated transfusions to maintain a supply of healthy red blood cells.

If you have hemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions on occasion. For example, you may need this treatment when you have an infection or other illness, or when your anemia is severe enough to cause tiredness.

If you have beta thalassemia major, or Cooley's anemia, you need regular blood transfusions (often every 2 to 4 weeks). These will help you maintain normal hemoglobin levels and red blood cell numbers. Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood.

Blood transfusions are lifesaving, but they're expensive and carry a risk of transmitting infections and viruses (for example, hepatitis). However, this risk is very low in the United States because of careful blood screening.

Iron Chelation Therapy

Because the hemoglobin in red blood cells is an iron-rich protein, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body.

To prevent this damage, iron chelation therapy is needed to remove excess iron from the body. Two medicines are used for iron chelation therapy.

• Deferoxamine is a liquid medicine that's given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include loss of vision and hearing.
• Deferasirox is a pill taken once a day. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and fatigue (tiredness).

Folic Acid Supplements

Folic acid is a B vitamin that helps build healthy red blood cells. You may need to take folic acid supplements in addition to blood transfusions and/or iron chelation therapy.

Other Treatments

Other treatments have been developed or are being tested, but they're used much less often.

Blood and Marrow Stem Cell Transplant 

A blood and marrow stem cell transplant replaces your abnormal or faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells.

A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have the severe form of the disorder are able to find a good match among donors and have the risky procedure.

Possible Future Treatments

Researchers are working to find new treatments for thalassemias. For example, it may be possible someday to insert a normal hemoglobin gene into stem cells in bone marrow. This will allow people to make their own healthy red blood cells and hemoglobin.

Researchers also are studying ways to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns. After birth, the body switches to making adult hemoglobin. Making more fetal hemoglobin may make up for the lack of healthy adult hemoglobin.

Treating Complications

Better treatments now allow people who have moderate and severe thalassemias to live much longer. As a result, these people must cope with complications that occur over time.

An important part of managing thalassemias is treating complications. Treatment may be needed for heart or liver diseases, infections, osteoporosis, and other problems.