荆州地区地中海贫血患者基因突变类型及频率分析  

Analysis of the Gene Mutation Type and Frequency of Thalasse-mia Patients in Jingzhou Area

作　　者：刘顺[1] 李承彬[1] LIU Shun;LI Cheng-Bin(Department of Laboratory Medicine,Jingzhou Central Hospital,Jingzhou 434000,Hubei Province,China)

机构地区：[1]荆州市中心医院医学检验部,湖北荆州434000

出　　处：《中国实验血液学杂志》2024年第3期836-840,共5页Journal of Experimental Hematology

基　　金：湖北省卫生计生委医药院校专项(WJ2016-YZ-05)。

摘　　要：目的:分析荆州地区地中海贫血患者的基因突变类型及频率。方法:选取2019年6月至2022年6月在荆州市中心医院就诊的721例疑似地中海贫血患者为研究对象。男性204例,女性517例,采用PCR-反向斑点杂交法,分析该群体中常见的23种α或β地中海贫血基因突变类型及频率。结果:721例疑似地中海贫血患者中,检测出α或β地中海贫血基因阳性228例(31.62%),其中α地中海贫血87例(38.16%),β地中海贫血140例(61.40%),α复合β地中海贫血1例(0.44%)。共检出α地中海贫血基因突变类型4种,均为缺失型,包括αα/--SEA(64/87,73.56%)、αα/-α3.7(14/87,16.09%)、--SEA/-α3.7(7/87,8.05%)、αα/-α4.2(2/87,2.30%);140例β地中海贫血患者中,单纯杂合子138例,以IVS-II-654M(63/140,45.00%)、CD41-42M(34/140,24.29%)、CD17M(18/140,12.86%)和CD27-28M(10/140,7.14%)基因型为主,占全部突变的89.29%(125/140),双重杂合子2例(2/140,1.43%),未检出β地中海贫血纯合子;α复合β地中海贫血1例,基因型为-α3.7/IVS-II-654M。比较不同类型地中海贫血发生率,差异具有统计学意义(χ^(2)=194.250,P<0.001)。疑似患者中男、女性检出地中海贫血基因阳性比例无显著性差异(χ^(2)=0.199,P=0.655)。结论:荆州地区α地中海贫血基因突变以αα/--SEA为主,β地中海贫血以IVS-II-654M突变多见,α复合β地中海贫血较为少见,可以为荆州地区制订地中海贫血防治措施提供参考依据。Objective:To analyze the gene mutation types and frequence of thalassemia patients in Jingzhou area.Methods:A total of 721 suspected thalassemia patients who were visited in Jingzhou Central Hospital from June 2019 to June 2022 were selected as the research objects.There were 204 males and 517 females.PCR-reverse dot hybridization method was used to analyze the types and frequencies of 23 commonαorβthalassemia gene mutations.Results:Among the 721 patients with suspected thalassemia,228 cases were positive forαorβthalassemia gene,with a total positive rate of 31.62%,including 87 cases ofα-thalassemia,accounting for 38.16%,and 140 cases ofβ-thalassemia,accounting for 61.40%.There was 1 case ofαβcomplex thalassemia,accounting for 0.44%.A total of 4 types ofα-thalassemia gene mutations were detected,all of which were deletion types,includingαα/--SEA(64/87,73.56%),αα/-α3.7(14/87,16.09%),--SEA/-α3.7(7/87,8.05%),αα/-α4.2(2/87,2.30%).Among 140 patients withβ-thalassemia,138 were pure heterozygotes,and the genotypes of IVS-II-654M(63/140,45.00%),CD41-42M(34/140,24.29%),CD17M(18/140,12.86%)and CD27-28M(10/140,7.14%)accounted for 89.29%of all mutations(125/140),2 cases of double heterozygosity(2/140,1.43%)were found,no homozygousβ-thalassemia were detected;1 case ofαβcomplex thalassemia with genotype-α3.7/IVS-II-654M was found.The incidence of difference types of thalassemia was statistically significant(χ^(2)=194.250,P<0.001).The percentage of positive thalassemia genes was not significantly difference between male and female suspected patients(χ^(2)=0.199,P=0.655).Conclusion:Theα-thalassemia gene mutation in Jingzhou area is dominated byαα/--SEA,and the IVS-II-654M mutation is more common inβ-thalassemia,andαβcomplex thalassemia is relatively rare,which can provide a reference for the formulation of prevention and treatment measures for thalassemia in Jingzhou area.

关 键 词：地中海贫血 基因突变 荆州地区 

分 类 号：R556.61[医药卫生—血液循环系统疾病]