Alpha Thalassemia Diagnosis and Treatment

How is alpha thalassemia diagnosed?

Alpha thalassemia is most commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and the Mediterranean region. Carrier status can be determined by the following:

  • Complete blood count (CBC). A measurement of size, number, and maturity of different blood cells in a small blood sample.
  • Hemoglobin electrophoresis with A2 and F quantitation. A lab procedure that differentiates the types of hemoglobin present. This test can diagnose beta thalassemia and other hemoglobin changes, but not alpha thalassemia.
  • Iron studies, FEP (free-erythrocyte protoporphyrin) and ferritin. These studies are done to rule out low iron as the cause of anemia.

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 alpha thalassemia

Specific treatment for alpha thalassemia will be determined by your child's doctor based on:

  • 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 alpha thalassemia may include:

  • Daily doses of folic acid
  • Blood transfusions (as needed) and iron chelation (removal of iron) therapy due to iron overload
  • Surgical removal of the spleen (if necessary)
  • Stem cell transplantation ("bone marrow transplant") from a healthy sibling