Molecular basis and diagnosis of thalassemia

다국어 초록 (Multilingual 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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