Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province,China  

作　　者：XI Hui LIU Qin XIE Dong Hua ZHOU Xu TANG Wang Lan TANG De Guo ZENG Chun Yan WANG Qiong NIE Xing Hui PENG Jin Ping GAO Xiao Ya WU Hong Liang ZHANG Hao Qing QIU Li FENG Zong Hui WANG Shu Yuan ZHOU Shu Xiang HE Jun ZHOU Shi Hao ZHOU Fa Qun ZHENG Jun Qing WANG Shun Yao CHEN Shi Ping ZHENG Zhi Fen MA Xiao Yuan FANG Jun Qun LIANG Chang Biao WANG Hua 

机构地区：[1]NHC Key Laboratory of Birth Defect for Research and Prevention,Hunan Provincial Maternal and Child Health Care Hospital,Changsha 410028,Hunan,China [2]Yongzhou Hospital for Maternal and Child Health Care,Yongzhou 425000,Hunan,China [3]Changde Hospital for Maternal and Child Health Care,Changde 415099,Hunan,China [4]Hengyang Hospital for Maternal and Child Health Care,Hengyang 421009,Hunan,China [5]Shaoyang Hospital for Maternal and Child Health Care,Shaoyang 422001,Hunan,China [6]Yiyang Hospital for Maternal and Child Health Care,Yiyang 413099,Hunan,China [7]Yueyang Hospital for Maternal and Child Health Care,Yueyang 414021,Hunan,China [8]Center of Prenatal Diagnosis,Chenzhou No.1 People’s Hospital,Chenzhou 423099,Hunan,China [9]Loudi Hospital for Maternal and Child Health Care,Loudi 417599,Hunan,China [10]Huaihua Hospital for Maternal and Child Health Care,Huaihua 418099,Hunan,China [11]Xiangtan Hospital for Maternal and Child Health Care,Xiangtan 411104,Hunan,China [12]Zhuzhou Hospital for Maternal and Child Health Care,Zhuzhou 412008,Hunan,China [13]Changsha Hospital for Maternal and Child Health Care,Changsha 410007,Hunan,China [14]Xiangxi Tujia and Miao Autonomous Prefecture Hospital for Maternal and Child Health Care,Jishou 416000,Hunan,China [15]Zhang Jiajie Centre for maternal and child health family planning services,Zhangjiajie 427299,Hunan,China [16]BGI Genomics,BGI-Shenzhen,Shenzhen 518083,Guangdong,China [17]Clinical Laboratory of BGI Health,BGI-Shenzhen,Shenzhen 518083,Guangdong,China [18]BGI-Wuhan Clinical Laboratories,BGI-Shenzhen,Wuhan 430074,Hubei,China [19]SEBIA Representative Office,Shanghai 200001,China

出　　处：《Biomedical and Environmental Sciences》2023年第2期127-134,共8页生物医学与环境科学（英文版）

基　　金：supported by the National Key Research and Development Program of China[2021YFC1005300];the science and technology innovation Program of Hunan Province—Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province[2019SK1010 and 2019SK1011];Hunan Province Clinical Medical Technology Innovation Guidance Project"Screening,prevention and control of single gene disease carriers and panel research in childbearing age people in Hunan Province"[2021SK50602].

摘　　要：Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

关 键 词：THALASSEMIA Carrier rate Molecular spectrum Abnormal hemoglobin variants α-globin triplication 

分 类 号：R556.7[医药卫生—血液循环系统疾病] R181.3[医药卫生—内科学]