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California Newborn Screening Program

Beta Thalassemia

Beta thalassemia major, also known as Cooley's anemia, is caused by a variety of mutations in the beta gene pair.  Anemia is generally severe, requiring regular transfusions and chelation therapy. Individuals with beta thalassemia are at increased risk for infection, growth retardation, and skeletal abnormalities.  About five cases of E/Beta thalassemia, four cases of Beta thalassemia major and one each of C, D and E/Beta thalassemia are identified annually.

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 (chelation).  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.


Last modified on: 8/24/2010 8:20 AM