Blood Res.  2021 Apr;56(S1):S39-S43. 10.5045/br.2021.2020332.

Molecular basis and diagnosis of thalassemia

Affiliations
  • 1Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

Abstract

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing variants for the diagnosis of thalassemia. Understanding these molecular basis and technologies will prove to be beneficial for the accurate diagnosis of thalassemia.

Keyword

Thalassemia; α-globin gene; β-globin gene
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