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Pathophysiology of beta thalassemia

Stanley L Schrier, MD
Section Editors
William C Mentzer, MD
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD


Beta thalassemia is an inherited hemoglobinopathy in which the production of one or both beta globin chains is impaired. The clinical manifestations include hemolytic anemia and impaired iron handling, the severity of which depends on the degree of impairment in beta globin production.

This topic reviews the pathophysiology of anemia in beta thalassemia, which includes ineffective erythropoiesis and hemolysis. Related issues are discussed in separate topic reviews:

Thalassemia genetics – (See "Molecular genetics of the thalassemic syndromes".)

Thalassemia laboratory diagnosis – (See "Methods for hemoglobin analysis and hemoglobinopathy testing".)

Beta thalassemia clinical manifestations and diagnosis – (See "Clinical manifestations and diagnosis of the thalassemias".)

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Literature review current through: Nov 2017. | This topic last updated: May 12, 2017.
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