Abnormal hemoglobins in the Silk Road region of China

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Abstract
A review is presented of the occurrence of 24 abnormal hemoglobins (13 α-chain variants and 11 β-chain variants) in populations in the Silk Road area of Northwestern China. Most frequently occurring were Hb D-Punjab [β21(GH4)Glu→Gln] in Uygurs, Kazaks, and Khalkhas, Hb G-Taipei [β22(B4)Glu→Gly] in persons of the Han nationality, and Hb G-Coushatta [β22 (B4)Glu→Ala] in the Uygurs, Kazaks, Hans, and related nationalities. The data suggest that these variants likely originated in Central Asia, in the Han nationality of China, and in the minorities of northern China, respectively. Other variants occurred at considerably lower frequencies and were imported from other countries or arose as independent mutations. Two variants [Hb Tashikuergan or α19(AB1)Ala→Glu; Hb Tianshui or β39(C5) Gln→Arg] were observed for the first time. The data from this study of the many variants support the movements of various populations in this area, as reported in numerous historical documents.