Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for b-thalassaemia in Sichuan Province (Southwestern China)
作者机构：Pediatric Research InstituteMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Key Laboratory of PediatricsChildren’s Hospital of Chongqing Medical UniversityChongqing400014PR China Chengdu Women’s and Children’s Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaSichuan Provinnce611731PR China School of Food Engineering and BiotechnologyHanshan Normal UniversityChaozhouGuangdong Province515063PR China
出 版 物：《Genes & Diseases》 (基因与疾病（英文）)
年 卷 期：2021年第8卷第2期
页 面：224-231页
核心收录：
学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 100401[医学-流行病与卫生统计学] 10[医学]
基 金：This work was supported by the National Natural Science Foundation of China(grant number 81370261) the Committee of Health and Family Planning in Sichuan Province(grant number 17PJ521)
主 题：Haemoglobinopathy Molecular epidemiology Sichuan Thalassaemia Population migration
摘 要：The incidence of haemoglobinopathy is high in China,especially south of the Yangtze ***,the exact status of haemoglobinopathy in Sichuan is *** carry out a detailed research of haemoglobinopathy in individuals living in Sichuan,13,298 subjects without clinical symptoms who were living in Sichuan Province,with an age distribution of 5e73 years,were included in this *** March 2014 and July 2017,these subjects received examinations at the Medical Lab of Chengdu Women’s&Children’s Central *** corpuscular volume(MCV)T),28(AG),and IVS-Ⅱ-654(CT).The main abnormal haemoglobin genotype(HbE)and thalassaemia genotype(–^(SEA),CD41-42(-TTCT))were consistent with those in other regions of China,but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.
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