What is beta thalassemia?
Red blood cells rely on the protein hemoglobin to transport oxygen from the lungs to the rest of the body. When genetic mutations prevent the production of the beta chain, one of two structures necessary to complete a hemoglobin protein, red blood cells aren’t produced in sufficient quantities, leading to anemia. Beta thalassemia is the most common inherited single gene disorder in the world. This disorder covers a spectrum of anemias, ranging in severity from mild (intermedia) to severe (thalassemia major or Cooley’s anemia). Individuals with thalassemia intermedia have some residual beta chain production, whereas those with thalassemia major have none. Beta thalassemia is most frequently seen in humid climates with a high incidence of malaria, such as Africa, the Mediterranean, the Middle East and Asia. This is due to the fact that being a carrier is thought to confer some resistance to malaria.

What are the most common symptoms?
Anemia is the main feature of beta thalassemia. Thalassemia major generally presents 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 presents at a later age with milder anemia. Affected individuals may also have some features of thalassemia major, such as enlarged liver and/or spleen, iron overload and bony abnormalities. Carriers of the beta thalassemia trait (one mutation) may have mild anemia.

Is there treatment available?
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.

What is the life expectancy for someone with beta thalassemia?
The severity of the anemia is the greatest factor. Untreated, individuals with beta thalassemia major may die before the third decade, but milder cases can allow for a normal lifespan.

How do I find out if I am a carrier?
Blood tests to assess for red blood cell and hemoglobin abnormalities can be used to determine carrier status. If abnormal, genetic testing can be performed of the HBB gene, which can identify up to 99% of carriers. Visit Screening and Counseling for more information. 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 families.

How is beta thalassemia diagnosed?
A physician knowledgeable of the symptoms can order blood tests to assess for red blood cell and hemoglobin abnormalities. If abnormal, genetic testing for mutations on the HBB gene can be performed.

Is prenatal diagnosis available?
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.

How can I find out more about beta thalassemia?

Cooley’s Anemia Foundation
Cooley’s Anemia Foundation provides information about thalassemia for those affected by the disease, as well as treatment options for patients. There are several branch chapters to increase the ability to support those affected by the disease.

Northern California’s Comprehensive Thalassemia Care
NCCTC provides information about thalassemia, the implications of the disease and ways to treat the disease. It is a helpful resource for all those affected by thalassemia.

Thalassemia International Federation
TIF is a non-profit, non-governmental patient-driven organization founded working in relation with the World Health Organization. TIF severs as an umbrella organization to 98 national thalassemia associations and other members from over 60 countries across the world.