杭州萧山地区地中海贫血基因突变类型分析  

Genotypes ofα-andβ-thalassemia detected in Hangzhou Xiaoshan area

作　　者：苏萍[1] 周其良[1] 王丽凤[1] 楼洁 蔡文亮 陆任理 孙晓 SU Ping;ZHOU Qiliang;WANG Lifeng;LOU Jie;CAI Wenliang;LU Renli;SUN Xiao(Department of Hematology,Zhejiang Xiaoshan Hospital,Hangzhou 311200,China)

机构地区：[1]浙江萧山医院血液内科,311200

出　　处：《浙江医学》2021年第4期401-404,共4页Zhejiang Medical Journal

基　　金：杭州市萧山区重大科技计划项目(2020309)。

摘　　要：目的分析杭州萧山地区地中海贫血患者基因检测结果,了解萧山地区地中海贫血基因突变类型。方法选取2016年4月至2020年8月浙江萧山医院收治的疑似地中海贫血患者358例,采用PCR+导流杂交法进行常规α、β地中海贫血基因检测。结果358例受检者经过基因检测确诊236例,阳性率为65.92%。236例中携带α地中海贫血基因64例,β地中海贫血基因168例,α合并β地中海贫血基因4例。64例α地中海贫血基因中共检测出4种常见α地中海贫血等位基因,以东南亚缺失型αα/--SEA基因最多共53例,占比为82.81%。比较少见的α地中海贫血2基因型中非缺失型纯合子αCSα/αCSα有1例。168例β地中海贫血基因携带者共检测出7种常见β地中海贫血等位基因,以CD41-42基因型最多共60例,占比35.71%。结论杭州萧山地区地中海贫血基因突变类型中α地中海贫血等位基因以东南亚缺失型αα/--SEA基因最多,β地中海贫血等位基因以CD41-42基因最多;β地中海贫血基因检出率明显高于α地中海贫血基因。Objective To analyze the genotypes ofα-andβ-thalassemia detected in Xiaoshan area of Hangzhou.Me thods A total of 358 patients with suspected thalassemia admitted to Zhejiang Xiaoshan Hospital from April 2016 to August2020 were enrolled,theα-andβ-thalassemia genes were detected by PCR and flow-through hybridization.Results The thalassemia genes were detected in 236 cases,with a positive rate of 65.92%.Among the 236 cases,64 cases carriedα-thalassemia gene,168 cases carriedβ-thalassemia gene,and 4 cases carriedα-thalassemia andβ-thalassemia genes.Four commonα-thalassemia alleles were detected in 64 cases ofα-thalassemia,and the Southeast Asian typeαα/--sea gene was the most common allele(53 cases),accounting for 82.81%.Among 2 rareα-thalassemia genotypes,one was the non-deletion homozygousαCSα/αCSα.Seven commonβ-thalassemia alleles were detected in 168β-thalassemia gene carriers,and CD41-42 genotype was the most common one(60 cases),accounting for 35.71%.Conclusion Among the thalassemia genotypes detected in Xiaoshan area of Hangzhou,the Southeast Asian deletion typeαα/--sea is the most common allele ofα-thalassemia gene,and CD41-42 is the most commonβ-thalassemia allele.The detection rate ofβ-thalassemia gene is significantly higher than that ofα-thalassemia gene.

关 键 词：地中海贫血 基因类型 杭州萧山地区 

分 类 号：R556.61[医药卫生—血液循环系统疾病]