Molecular basis and diagnosis of thalassemia
- Author:
Jee-Soo LEE
1
;
Sung Im CHO
;
Sung Sup PARK
;
Moon-Woo SEONG
Author Information
- Publication Type:REVIEW ARTICLE
- From:Blood Research 2021;56(S1):S39-S43
- CountryRepublic of Korea
- Language:English
- 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.
