Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for beta-thalassaemia in Sichuan Province (Southwestern China)

作者全名："Yu, Xia; Lin, Min; Liu, Chenggui; Liao, Zhiyong; Wei, Yongqiong; Liu, Rui; Zhu, Jing"

作者地址："[Yu, Xia; Zhu, Jing] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Pediat Res Inst,Chongqing Key Lab Pediat,China In, Minist Educ,Key Lab Child Dev & Disorders,Childre, Chongqing 400014, Peoples R China; [Yu, Xia; Liu, Chenggui; Liao, Zhiyong; Wei, Yongqiong; Liu, Rui] Univ Elect Sci & Technol China, Chengdu Womens & Childrens Cent Hosp, Sch Med, Chengdu 611731, Sichuan, Peoples R China; [Lin, Min] Hanshan Normal Univ, Sch Food Engn & Biotechnol, Chaozhou 515063, Guangdong, Peoples R China"

通信作者："Zhu, J (corresponding author), Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Pediat Res Inst,Chongqing Key Lab Pediat,China In, Minist Educ,Key Lab Child Dev & Disorders,Childre, Chongqing 400014, Peoples R China."

来源：GENES & DISEASES

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:000644364000013

JCR分区：Q1

影响因子：6.8

年份：2021

卷号：8

期号：2

开始页：224

结束页：231

文献类型：Article

关键词：Haemoglobinopathy; Molecular epidemiology; Sichuan; Thalassaemia; Population migration

摘要："The incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown. To 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 5-73 years, were included in this study. Between March 2014 and July 2017, these subjects received examinations at the Medical Lab of Chengdu Women's & Children's Central Hospital. Mean corpuscular volume (MCV) < 82 fL or mean corpuscular haemoglobin (MCH) < 27 pg was used to indicate haemoglobinopathy carriers. Abnormal haemoglobin was screened by electrophoresis, and genes were sequenced to identify genotypes. Genotype diagnosis of alpha- and beta-thalassaemia was carried out by using PCR and shunt hybridization. There were 638 suspected haemoglobinopathy carriers (4.80%, 638/13,298). DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E. The frequency of heterozygosity for thalassaemia was 4.12% (1.48% for alpha-thalassaemia and 2.61% for beta-thalassaemia) in Sichuan Province. The mutation spectrum of alpha-thalassaemia consisted of the five most common mutations: -(SEA), -alpha(3.7), -alpha(4.2), alpha(CS), and alpha(QS). Seven types of beta-thalassaemia mutation were found in this study: CD41-42 (-TTCT) was the most frequent (28.47%), followed by 17 (A > T), -28 (A > G), and IVS-II-654 (C > T). 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 beta-thalassaemia in Sichuan was higher than that of alpha-thalassaemia. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)."

基金机构：National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81370261]; Committee of Health and Family Planning in Sichuan Province [17PJ521]

基金资助正文：This work was supported by the National Natural Science Foundation of China (grant number 81370261) and the Committee of Health and Family Planning in Sichuan Province (grant number 17PJ521) .