贵阳地区9334例样本的地中海贫血基因筛查结果分析  

Analysis of the Results of Thalassemia Gene Screening in 9334 Cases in Guiyang Region

作　　者：周春欢 邹文兵 曹政媛 ZHOU Chun-Huan;ZOU Wen-Bing;CAO Zheng-Yuan(Department of Clinical Laboratory,Guihang Guiyang Hospital,Guiyang 550000,Guizhou Province,China)

机构地区：[1]贵航贵阳医院医学检验科,贵州贵阳550000

出　　处：《中国实验血液学杂志》2025年第2期486-490,共5页Journal of Experimental Hematology

摘　　要：目的:探讨贵阳地区地中海贫血(简称“地贫”)的常见基因突变类型和分布特征,并初步分析贵阳地区珠蛋白基因罕见突变情况。方法:对2016年6月-2023年2月来我院进行地贫基因检测的9334例筛查者,采用PCR-导流杂交技术进行常见地贫基因突变类型检测,罕见突变和未知突变采用一代测序技术进行检测。结果:9334例样本中,检出常见地贫基因阳性标本895例,阳性率为9.59%。其中,α地贫565例(63.13%),以αα/-α^(3.7)(46.37%)为主,其次为αα/--^(SEA)(26.55%)、αα/-α^(4.2)(10.62%);β地贫310例(34.64%),以β^(CD17)/β^(N)(39.35%)最为常见,其次为βCD41-42/β^(N)(31.29%)、βIVS-II-654/β^(N)(12.90%);αβ复合型地贫20例(2.23%),以αα/-α^(3.7)复合β^(CD17)/β^(N)为主。此外,一代测序发现8例珠蛋白基因罕见突变,包括7种突变类型,其中,HBB:c.-137C>T(-87 C>T)位点为贵州首次报道;HBA1:c.*29C>T和HBB:c.93-50C>T(IVS I-81 C>T)为血红蛋白数据库中未记录的新突变位点。结论:贵阳地区地贫基因突变类型复杂多样,阳性率高,了解贵阳地区地贫基因突变类型,有助于防控重型地贫患儿的出生。Objective:To investigate the common genotypes and distribution characteristics of thalassemia in Guiyang region,and preliminarily analyze the rare mutations of globin genes in this area.Methods:A total of 9334 individuals who came to our hospital for thalassemia screening from June 2016 to February 2023 were included in this study.They were examined for common thalassemia mutations using PCR-based flow-through hybridization technology.Meanwhile,rare and unknown mutations were detected by Sanger sequencing.Results:Among the 9334 cases,895 positive cases of common thalassemia were detected,with a positive rate of 9.59%.Among the positive samples,565 cases(63.13%)were confirmed to beαthalassemia,of which the most common genotypes wereαα/-α^(3.7)(46.37%),followed byαα/--^(SEA)(26.55%)andαα/-α^(4.2)(10.62%);310 cases(34.64%)were diagnosed asβthalassemia,withβ^(CD17)/β^(N)(39.35%)being the most frequent genotype,followed byβCD41-42/β^(N)(31.29%)andβIVS-II-654/β^(N)(12.90%).There were 20 cases(2.23%)ofαβcomplex thalassemia,mainly beingαα/-α^(3.7)combined withβ^(CD17)/β^(N).Additionally,8 cases of rare globin gene mutations were found by Sanger sequencing,including 7 mutation types.Among them,HBB:c.-137C>T(-87 C>T)was reported for the first time in Guizhou;HBA1:c.*29C>T and HBB:c.93-50C>T(IVS I-81C>T)were new mutations that had not been recorded in either the HbVar or IthaGenes database.Conclusion:Guiyang region has a high incidence of thalassemia mutations,and these mutations are diverse and complex.Analyzing gene mutation types of thalassemia in this area can contribute to the prevention of the birth of children with severe thalassemia.

关 键 词：地中海贫血 罕见突变 基因检测 

分 类 号：R556.61[医药卫生—血液循环系统疾病]