Thalassemia

Alternative Names

Mediterranean anemia; Cooley’s anemia; Beta thalassemia; Alpha thalassemia

Definition of Thalassemia

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.

Causes, incidence, and risk factors

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Signs and tests

A physical exam may reveal a swollen (enlarged) spleen.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

Expectations (prognosis)

Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome.

Review

Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 1/31/2010

Thalassemia major
Thalassemia minor

ADAM Medical Encyclopedia

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