The Types and Distribution of α-Thalassemia-2 in China

Publisher Website
Google Scholar
Abstract
We studied 111 cases of Hb H disease from different families using Bam HI and Bgl II restriction enzymes. The results showed that 76 cases (68.5%) were of the deletion type, eight cases (7.2%) had Hb Constant Spring (Hb CS, and 27 cases (24.3%) were of the nondeletion and Hb CS types (αT). Distribution of the α-thalassemia-2 (α-thal-2) gene varies with the different regions in China. The rightward deletion (α−3.7) is found chiefly in Guangdong Province, the leftward deletion (α−4.2) mostly in Jiangxi Province, and the nondeletional type in Guangxi Province where the Han nationality is most prominent. We studied the nondeletional Hb H type by DNA gene mapping, digestion with Msp I, and hybridization with a 32p-α probe for the presence of the Hb Quong Sze [α125(H8)Leu→Pro] mutation. It appears that none of these α-thal-2 genes contain the Hb Quong Sze mutation.