惠州市大规模育龄人群α-和β-地中海贫血分子流行病学调查  

Epidemiological Study ofα⁃andβ⁃Thalassemia for Large⁃Scale Couples of Childbearing Ages in Huizhou City

作　　者：贺海林 陈剑虹 官志扬 钟泽艳 钟国兴 陈迪娜 刘彦慧 HE Hailin;CHEN Jianhong;GUAN Zhiyang;ZHONG Zeyan;ZHONG Guoxing;CHEN Dina;LIU Yanhui(Guangdong Medical University,Dongguan,Guangdong,China,523808;Department of Medical Genetics and Prenatal Diagnosis,Huizhou First Maternal and Child Health Care Hospital,Huizhou,Guangdong,China,516100;Department of Prenatal Diagnosis Center,Dongguan Maternal and Child Health Care Hospital,Dongguan,Guangdong,China,523000)

机构地区：[1]广东医科大学,广东东莞523808 [2]惠州市第一妇幼保健院医学遗传与产前诊断科,广东惠州516100 [3]东莞市妇幼保健院产前诊断中心,广东东莞523000

出　　处：《分子诊断与治疗杂志》2023年第6期1077-1081,共5页Journal of Molecular Diagnostics and Therapy

基　　金：惠州市科技计划(医疗卫生)项目(2021WC0106208)。

摘　　要：目的 调查广东省惠州市育龄人群中α-和β-地中海贫血的携带率、突变基因构成比,为本地区地贫防控提供决策数据。方法 2017年1月至2021年12月,共139 859对育龄夫妇(279 718例)参加了地贫初筛,对其中40 876例可疑地贫样本,经由惠州市第一妇幼保健院医学遗传与产前诊断科采用跨越断裂点的聚合酶链式反应技术(Gap-PCR)和反向点杂交技术(RDB)行α-和β-地贫基因检测。所有数据经由开源统计软件Jamovi(v.2.2.5)统计。结果 279 718例育龄夫妇初筛阳性40 876例,初筛阳性率14.61%;40 876例初筛阳性受检者中29 209例(10.44%)确诊为地贫,其中α-地贫19 315例(6.91%)、β-地贫8 454例(3.02%)、α+β-复合型地贫1 440例(0.51%);惠州市α-和β-地贫常见基因突变谱总体特征为,少数基因占据基因突变类型的绝大部分,即呈严重的偏态分布。惠州市α-地贫突变谱与本省其他高发地区相似,β-地贫突变谱则呈现本地化特征。结论 惠州市为α-和β-地贫高发区,本项研究为惠州市首次在大规模育龄人群中开展的地贫分子流行病学调查,对强化该地区地贫防控具有重要意义。Objective To investigate aα⁃andβ⁃thalassemia(α⁃andβ⁃thal)gene frequencies and gene mutation spectrum for couples of child bearing ages in Huizhou Region,Guangdong Province.Methods A total of 279,718 cases participated in screening program,and 40,876 suspected cases of thalas⁃semia were analyzed by Gap⁃PCR,RDB in Department of Medical Genetics and Prenatal Diagnosis,Huizhou First Maternal and Child Health Care Hospital from January 2017 to December 2021.All data were analyzed with the open⁃source statistical software Jamovi v.2.2.5.Results Among the 22,401 subjects,40,876 sus⁃pected cases of thalassemia and their partners had found,the positive screening rate was 14.61%.Among the 40876 subjects with suspected thalassemia,29,209(10.44%)subjects were diagnosed with thalassemia,in⁃cluding 19,315(6.91%)subjects withα⁃thalassemia(α⁃thal),8,454(3.02%)subjects withβ⁃thalassemia(β⁃thal),and 1,440(0.51%)subjects co⁃inheritance ofα⁃andβ⁃thalassemia(α+β⁃thal).Huizhou Cityα⁃andβ⁃The general feature of the common gene mutation spectrum of thalassemia is that a few genes account for the vast majority of gene mutation types,that is,they are seriously skewed.The frequencies ofα⁃thal common mutations in Huizhou could have the same pattern with other regions of Guangdong province,while forβ⁃thal genotypes,different regions had different frequent mutation spectrums.Conclusions There was a high preva⁃lence ofα⁃andβ⁃thal in Huizhou City.This study is the first comprehensive molecular epidemiological survey of thalassemia in Huizhou,and will be of great significance to strengthen the prevention and control of thalas⁃semia in this region.

关 键 词：地中海贫血 分子基因谱 惠州市 流行病学 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R181.3[医药卫生—内科学]