Blood Res.
2021 Apr;56(S1):S39-S43. 10.5045/br.2021.2020332.
Molecular basis and diagnosis of thalassemia
- Affiliations
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- 1Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- KMID: 2515297
- DOI: http://doi.org/10.5045/br.2021.2020332
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.
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