rs33949486

This study describes the application of denaturing gradient gel electrophoresis (DGGE) for rapid molecular characterization of unstable β-globin chain variants causing hemolytic disease. The authors identified three unstable hemoglobin mutations: Hb Perth (β32 Leu-Pro), Hb Terre-Haute (β106 Leu-Arg), and a new variant Hb Dieppe (β127 Gln-Arg/CAG-CGG). The DGGE method combined with PCR amplification and direct sequencing enabled detection of point mutations within days, avoiding costly protein sequencing.

Survey of abnormal hemoglobin variants in 215,785 individuals from the Silk Road region of China identified 24 distinct hemoglobin variants (13 α-chain and 11 β-chain) with an overall incidence of 0.322%. Hb D-Punjab [β121(GH4)Glu→Gln] was most common (0.412% in Uygurs, 0.396% in Kazaks), followed by Hb G-Taipei [β22(B4)Glu→Gly] in Han Chinese, and Hb G-Coushatta [β22(B4)Glu→Ala] across multiple ethnic groups. Two new variants were identified: Hb Tashikuergan and Hb Tianshui.