血红蛋白变异体Hb CS在广东地区的筛查情况.pdf

血红蛋白变异体Hb CS在广东地区的筛查情况.pdf

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血红蛋白变异体Hb CS在广东地区的筛查情况

Hemoglobin, 35(1):87–90, (2011) Copyright © Informa Healthcare USA, Inc. ISSN: 0363-0269 print/1532-432X online DOI: 10.31092010.547430 SHORT COMMUNICATION SCREENING FOR Hb CONSTANT SPRING IN THE GUANGDONG PROVINCE, SOUTH CHINA, USING THE SEBIA CAPILLARY ELECTROPHORESIS SYSTEM 1 1 / 0 2 / 1 0 n o 4 5 2. Can Liao, Jian-Ying Zhou, Xing-Mei Xie, and Dong-Zhi Li 8 Prenatal Diagnostic Center, Guangzhou Maternal Neonatal Hospital, Guangzhou Women 1 . 8 0 Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People’s Republic 1 . 3 of China 1 1 y b m y. o l c n e. o r e Hb Constant Spring [Hb CS; α 142, Term→Gln (TAACAA in α2)] is a nondeletional a s c u h t l α-thalassemia (α-thal) defect difficult to detect on conventional electrophoresis because of its small l a a n e o amount in heterozygotes. We have found that individuals with an Hb CS trait could efficiently be h s a r m e detected using the Sebia capillarys 2 system. In the present study, we have confirmed this method p r o r f o in a cohort of 23,842 individuals from Guangdong Province (South China). Hb CS was detected n F i m in 71 (0.3%) of the cases. The levels of Hb CS in heterozygotes ranged from 0.1–1.0% with an o r average of 0.6%. We propose the reported 0.3% as a realistic figure for the prevalence of Hb CS in f d e South China. d a o l n w Keywords Hemoglobin

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