How is alpha thalassemia differentiated from beta thalassemia?

Updated: May 07, 2021
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Alpha thalassemia, which is characterized by genetic defects in the alpha-globin gene, is another known cause of mild microcytic anemia and has features similar to those of beta thalassemia. However, in contrast to beta-thalassemia minor (carrier) patients who have elevated levels of Hb A2 (2 alpha-globin chains complexed with 2 delta-globin chains), patients with alpha-thalassemia have normal levels of Hb.

Establishing the diagnosis of the alpha-thalassemia trait is often a diagnosis of exclusion. Definitive diagnosis requires measuring either the alpha-beta chain synthesis ratio or performing genetic tests of the alpha-globin cluster (using Southern blot or polymerase chain reaction [PCR] assay tests).

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