海南省白沙黎族自治县2020年新生儿地中海贫血基因携带情况及其特点分析

Analysis of Gene Carrier and Characteristics for Neonatal Thalassemia in Baisha Li Autonomous County,Hainan Province in 2020

背景海南省从2012年就致力于进行孕妇产前地中海贫血基因筛查,以降低地中海贫血患儿的出生率,但新生儿地中海贫血防控仍是海南省防控短板。目的了解海南省白沙黎族自治县新生儿人群中地中海贫血致病基因携带情况及基因特点。方法根据知情同意自愿原则,收集2020年在海南省白沙黎族自治县助产单位出生的912例新生儿足跟血干血斑,使用荧光PCR熔解曲线法检测中国人常见的地中海贫血基因,并对部分样本使用PCR+导流杂交法进行验证。基因检测试剂盒提示疑似新突变的样本外送基因公司分析验证。结果(1)在912例样本中,检出地中海贫血基因608例。白沙黎族自治县新生儿群体地中海贫血基因携带率高达66.7%(608/912),α、β以及α复合β地中海贫血基因检出人数分别为521例、25例和62例,其中α地中海贫血基因检出前三位基因型分别为-α^(3.7)/αα(26.3%)、-α^(4.2)/αα(23.8%)和α^(WS)α/αα(12.7%),并检出-α^(4.2)/HKαα、c.118C>T和c.309C>T三种少见地贫基因型。。(2)以民族划分,在340例汉族、540例黎族和32例其他少数民族新生儿群体中地中海贫血基因携带率分别为51.5%(175/340)、76.7%(414/540)和59.4%(19/32)。结论海南省白沙黎族自治县新生儿人群中地中海贫血基因携带率高,地中海贫血基因型丰富,以α地中海贫血基因型最常见,其中黎族新生儿人群携带率最高。

Background Since 2012,Hainan Province has been committed to prenatal thalassemia screening to reduce the low birth rate of thalassemia children.However,the prevention and control of neonatal thalassemia is still a weak board in our province.Objective To investigate the carrying status of thalassemia-causing genes and genetic characteristics of thalassemia in Baisha Li Autonomous County,Hainan Province.Methods According to the principle of voluntary informed consent,912 newborns born in themidwifery Baisha Li Autonomous County of Hainan Province units in 2020 were collected with dried blood spots on the heels.Fluorescent PCR melting curve method was used to detect the common thalassemia genes in Chinese,and some samples were verified by PCR+flow-through hybridization method.Genetic testing kits suggested that samples with suspected new mutations were sent to the genetic company for analysis and verification.Results(1)Among the 912 samples,608 thalassemia genes were detected,the carrying rate of thalassemia genes in the newborn population in Baisha Li Autonomous County was 66.7%(608/912).The number ofα,β,andαcompoundβthalassemia genes detected were 521,25,and 62,respectively.The top three genotypes ofα-thalassemia gene detected were–α^(3.7)/αα(26.3%),-α^(4.2)/αα(23.8%),and α^(WS)α/αα(12.7%),respectively.Three rare genotypes of thalassemia gene,-α^(4.2)/HKαα,c.118C>T,and c.309C>T,were also detected.(2)Divided by ethnicity groups,the thalassemia gene carrier rates in newborn populations of Han,Li and other ethnic minorities were 51.5%(175/340),76.7%(414/540)and 59.4%(19/32),respectively.Conclusion The thalassemia gene carrier rate is high in the newborn population of Baisha Li Autonomous County,Hainan Province,and the thalassemia genotypes are abundant.The alpha thalassemia genotype is the most common,and the Li nationality newborn population has the highest carrier rate.