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KMID : 1142020210560000039
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Blood Research
2021 Volume.56 No. 0 p.39 ~ p.43
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Molecular basis and diagnosis of thalassemia
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Lee Jee-Soo
Cho Sung-Im
Park Sung-Sup
Seong Moon-Woo
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Abstract
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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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KEYWORD
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Thalassemia, α-globin gene, β-globin gene
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