615例携带地中海贫血基因者基因类型调查分析  

Investigation and analysis of gene types of 615 patients carrying thalassemia gene

作　　者：方少壮 苏玉婷 FANG Shaozhuang;SU Yuting(Department of Blood Transfusion,Gaoyao District People's Hospital of Zhaoqing,Zhaoqing,Guangdong 526000,China;Department of Clinical Laboratory,Gaoyao District People's Hospital of Zhaoqing,Zhaoqing,Guangdong 526000,China)

机构地区：[1]肇庆市高要区人民医院输血科,广东肇庆526000 [2]肇庆市高要区人民医院检验科,广东肇庆526000

出　　处：《医药前沿》2024年第35期9-11,共3页Journal of Frontiers of Medicine

摘　　要：目的:调查分析携带地中海贫血基因患者基因类型,以期为地中海贫血临床诊断、治疗及遗传咨询提供依据。方法:选取2022年1月—2024年4月在肇庆市高要区人民医院进行地中海贫血基因筛查的1507例作为研究对象,筛查地中海贫血基因携带者并对其基因类型进行调查分析。结果:在1507例受检者中检出615例携带地中海贫血基因,其中,α-地中海贫血461例,β-地中海贫血179例,α、β复合型地中海贫血25例。在α-地中海贫血者基因类型中,-SEA/αα占比最高,为287例,占62.3%;其次是-α3.7/αα76例,占16.5%;第3位是-α4.2/αα19例,占4.1%。在β-地中海贫血者中,基因类型居前3位的为β^(41-42)/βN、β^(654)/β^(N)、β^(-28)/β^(N),分别为61、30、27例,占34.1%、16.8%、15.1%。结论:该院所在地区地中海贫血基因检测阳性率较高,且基因类型较复杂,故应注意开展地中海贫血筛查及产前咨询等,以加强优生优育。Objective To investigate and analyze the gene types of patients with thalassemia gene,so as to provide evidence for clinical diagnosis,treatment and genetic counseling of thalassemia.Methods A total of 1507 cases of thalassemia gene screening in Gaoyao District People's Hospital of Zhaoqing from January 2022 to April 2024 were selected as the research objects.The thalassemia gene carriers were screened and their gene types were investigated and analyzed.Results Among the 1507 cases,615 cases were detected to carry thalassemia genes,including 461 cases ofα-thalassemia,179 cases ofβ-thalassemia,and 25 cases ofα,βcompound thalassemia.Among theα-thalassemia gene types,-SEA/ααaccounted for the highest proportion of 287 cases,accounting for 62.3%;followed by-α3.7/αα76 cases,accounting for 16.5%;the third was-α4.2/ααcases,accounting for 4.1%.Inβ-thalassemia,the top three gene types wereβ^(41-42)/β^(N),β^(654)/β^(N),β^(-28)/β^(N),with 61 cases,30 cases and 27 cases respectively,accounting for 34.1%,16.8%and 15.1%.Conclusions The positive rate of thalassemia gene detection in the area where the hospital is located is high,and the gene type is complex.Therefore,attention should be paid to thalassemia screening and prenatal counseling to strengthen eugenics.

关 键 词：地中海贫血 Α-地中海贫血 Β-地中海贫血 α、β复合型地中海贫血 基因类型 

分 类 号：R473[医药卫生—护理学]