Anemia is the main feature of beta thalassemia. Thalassemia major generally appears in the first two years of life with severe anemia and enlargement of the liver and/or spleen. These children often have poor growth, paleness, irritability, fever, feeding problems, failure to thrive, impaired physical capacity, iron overload and possible bone abnormalities. Puberty may also be delayed. Thalassemia intermedia begins to show at a later age with a milder form of anemia. Affected individuals may also have some features of thalassemia major, such as an enlarged liver and/or spleen, iron overload and bony abnormalities. Carrier of the beta thalassemia trait may have mild anemia.
A physician knowledgeable of its symptoms can order blood tests to asses for red blood cell and hemoglobin abnormalities. If abnormal, genetic testing for mutations of the HBB gene can be performed.
Bone marrow transplants and regular blood transfusions have both proven successful, depending on the severity of the anemia. Individuals with thalassemia intermedia generally do not need transfusions as frequently, if at all. Chelation therapy, which removes excess iron from the blood stream, may also be necessary to prevent iron overload.
The severity of the anemia is the greatest factor in determining life expectancy. Untreated, individuals with beta thalassemia major may die before 30, but milder cases can allow for a normal lifespan.
Blood tests to asses for red blood cell and hemoglobin abnormalities can be used to determine carrier status. If abnormal, genetic testing of the HBB gene can be performed, which can identify up to 99% of carriers. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their family.
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.