Spectrum of HBB gene variations in β-thalassemia patients at the National institute of Hematology and Blood transfusion
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Abstract
β-thalassemia is one of the most common hematological diseases caused by inherited autosomal pathogenic variants. DNA was extracted from peripheral blood samples anticoagulated with EDTA-K2 in 224 β-thalassemia patients, and the HBB gene variants were detected using MARMS-PCR, Sanger sequencing or MLPA. The results identified 416 variants in 224 β-thalassemia patients at five positions in the HBB gene cluster. The two most common variants found were CD26 (HbE) accounted for 31.7%, and CD17 accounted for 30.5%. Interestingly, we also identified HBB:c.79G>C and HBB:c.316-185C>T. This was the first time that both variants were discovered in the Vietnamese population.
Article Details
Keywords
β-thalassemia, MARMS-PCR, Gene sequencing, MLPA HBB
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