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California Newborn Screening Program

Beta Thalassemia

What is Beta Thalassemia Disease?

Beta thalassemia disease is also called beta thalassemia major, Mediterranean Anemia, or Cooley's Anemia (Dr. Thomas Cooley first described this disorder). In beta thalassemia disease, the child inherits a gene for beta thalassemia from each parent. There is an absent or decreased amount of one of the components of hemoglobin, the beta globin chains. This causes very little or no normal hemoglobin to be made. The red blood cells break down, and there is severe anemia. Without treatment, there is paleness, weakness, and poor growth. The liver and spleen can become enlarged, and changes in the bones can happen as they try to make more red blood cells. Without treatment, the heart fails, causing death.

Some types of beta thalassemia disease can be less severe, requiring less frequent treatment (these types may be called "beta thalassemia intermedia").

What is the Treatment for Beta Thalassemia Disease?

If the anemia is severe, the child will need regular blood transfusions, beginning as early as six weeks of age. Most transfusions are done once or twice a month. The child will also need medicine to remove the extra iron that builds up in the body as the red blood cells break down. There is more susceptibility to infections. Children with less severe anemia may receive less frequent transfusions, or may need them only occasionally.

For some children with beta thalassemia major, bone marrow transplants can be done if there is a well-matched donor. A successful transplant could cure the disease; however, it is still a high-risk procedure. A new procedure called related-donor cord blood transplant may be possible for families with an affected child who are planning to have another child. Some medications that could increase the amount of hemoglobin in the blood are being studied. The baby's blood specialist can discuss all the options with the family.

What is Hemoglobin E?

Hemoglobin E is a very common type of hemoglobin in Southeast Asians and in Californians of Southeast Asian origin. Newborn Screening in California detects hemoglobin E, without any of the usual hemoglobin A, in many babies every year. The test results for newborns with Hb EE and Hb E beta thal look the same. Hb EE is not a disease, but Hb E beta thal can be clinically significant. Repeat testing, which is part of the Newborn Screening Program, is required to distinguish between the two. Repeat testing most often will show that the baby has hemoglobin EE, which is not a disease, and does not require treatment. There is a mild anemia that is not helped by taking iron. The doctor should test for the amount of iron in the child's blood before giving the child extra iron.

Sometimes, further testing will show that the baby inherited a gene for hemoglobin E from one parent, and a gene for beta thalassemia from the other parent. In this case, the baby has a hemoglobin disease called hemoglobin E beta thalassemia disease. Effects of this disease range from mild to severe anemia and causes problems similar to beta thalassemia disease (see section above).

What is the Treatment for Hemoglobin E Beta Thalassemia Disease?

When the anemia is severe, the child will need regular blood transfusions, as in beta thalassemia disease. (See "What is the Treatment for Beta Thalassemia Disease?" above.)


Last modified on: 8/24/2010 8:26 AM