What are beta thalassemia syndromes?

Updated: Dec 19, 2018
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (See Etiology.)

Patients in whom the clinical severity of the disease lies between that of thalassemia major and thalassemia minor are categorized as having thalassemia intermedia. Several different genotypes are associated with thalassemia intermedia.

Hemoglobin (Hb) E, a common Hb variant found in Southeast Asia, is associated with a beta thalassemia phenotype, and this variant is included in the beta thalassemia category of diseases.

Patients with thalassemia minor usually do not require any specific treatment. Treatment for patients with thalassemia major includes long-term transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic transplantation, and supportive measures. See Treatment.


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