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Beta Thalassemia Diagnosis and Treatment

How is beta thalassemia diagnosed?

Beta thalassemia is most often found in people who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease. The following tests help diagnose thalassemia:

  • Complete blood count (CBC). A measurement of size, number, and maturity of different blood cells in a small blood sample.
  • Hemoglobin electrophoresis. A lab procedure that differentiates the types of hemoglobin present. Only hemoglobin F (also known as "baby hemoglobin" or fetal hemoglobin") and A2 are seen in beta thalassemia major.

All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.

Treatment for beta thalassemia major or Cooley's anemia

Specific treatment for beta thalassemia major or Cooley's anemia will be determined by your child's doctor based on the following:

  • Your child's age, overall health, and medical history
  • Extent of the disease
  • Your child's tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disease
  • Your opinion or preference

Treatment for beta thalassemia may include:

  • Regular blood transfusions
  • Medications (to decrease amount of iron in the body, called chelation therapy)
  • Surgical removal of the spleen (if necessary)
  • Daily doses of folic acid supplements
  • Monitoring of the gallbladder, liver, and bone density
  • No iron supplements
  • Bone marrow transplantation from a matched donor.  This is the only cure currently available for beta thalassemia. Other therapies are being studied, including gene therapy.