Beta-thalassemia overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
Historical Perspective
The Thalassemia term was invented by an hematologist, Dr. Thomas Cooley, in 1925. It has a Greek origin and consists of Thalassa and Emia which mean sea and blood, respectively. The diagnostic certainty was ultimately established with hemoglobin electrophoresis in the 20th century.
Classification
Beta-Thalassemia is classified based on the severity and the type of responsible mutation. It mainly has 3 types: β thalassemia minor, β thalassemia major, Thalassemia intermedia. There are less common types such as E/Beta-thalassemia, autosomal dominant Beta-thalassemia and atypical Beta-Thalassemia.