A review is presented of the occurrence of 24 abnormal hemoglobins (13 alpha-chain variants and 11 beta-chain variants) in populations in the Silk Road area of Northwestern China. Most frequently occurring were Hb D-Punjab [beta 121(GH4)Glu----Gln] in Uygurs, Kazaks, and Khalkhas, Hb G-Taipei [beta 22(B4)Glu----Gly] in persons of the Han nationality, and Hb G-Coushatta [beta 22 (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 alpha 19(AB1)Ala----Glu; Hb Tianshui or beta 39(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from this study of the many variants support the movements of various populations in this area, as reported in numerous historical documents.
This paper summarizes data obtained during a screening program involving 11,563 persons from the Silk Road region in China. The mean incidence of thalassemia is 1.62% with an increase from east to west. The incidence in the Hui population (3.01%) is higher than in Kazaks (2.92%), and in Uygur (2.22%). The Han population also has a higher incidence (0.98%) than seen for other regions in Northern China. The thalassemias observed are classified into seven groups; beta-thalassemia accounts for 89.48% of the total, and alpha-thalassemia for 10.52%.
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