摘要
目的分析三亚市高风险人群地中海贫血(地贫)基因突变类型及其分布特征,并对血常规筛查效果进行评估,为三亚市制定地贫防治措施提供科学依据。方法采用回顾性分析方法,收集三亚市妇幼保健院2019年1月至2021年8月进行地贫基因筛查的高风险人群的检测样本数据及临床资料,分析地贫基因突变类型及其分布特征,并根据地贫基因筛查结果评估血常规指标[平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)]筛查的漏检率及灵敏度。结果共纳入5760例高风险人群的地贫基因筛查结果,检出地贫基因突变样本3868例,检出率为67.15%。其中,α-地贫基因突变样本2979例,检出率为51.72%,包括常见基因型样本2966例(99.56%),以αα/-α^(3.7)基因型为主(20.14%,600/2979);罕见基因型样本共13例(0.44%),含αα/--^(THAI)4例,α^(CD40(AAG>AA-))α/αα3例,α^(PP)α/αα2例,Fusion gene/αα、Fusion gene/α^(WS)α、α^(WS)α/α^(PP)α、α^(CD40(AAG>AA-))α/α^(WS)α各1例。检出β-地贫基因突变样本340例,检出率为5.90%,包括常见基因型样本336例(98.82%),以β^(CD41/42)/β^(N)基因型为主(57.65%,196/340);罕见基因型样本共4例(1.18%),含β^(CD5(-CT))/β^(N)、β^IVS-Ⅱ-2(-T))/β^(N)、β^(IVS-Ⅱ-761(-T))/β^(N)和βInitiation(ATG>AGG)/β^(N)各1例。检出αβ-复合型地贫基因突变样本549例,检出率为9.53%,以α缺失型复合β^(CD41/42)基因型为主(61.02%,335/549)。可回溯MCV、MCH的样本共4226例,其中经地贫基因筛查检出地贫基因突变样本3007例,MCV联合MCH指标异常2584例,血常规筛查漏检样本423例,漏检率为14.07%(423/3007);漏检样本主要为α静止型,占总漏检样本的89.13%(377/423)。MCV联合MCH对α-、β-、αβ-复合型地贫的筛查灵敏度分别为82.65%、98.07%和98.15%。结论三亚市地贫基因突变类型复杂多样,MCV联合MCH的血常规筛查存在一定漏检。
Objective To analyze the mutation types and distribution characteristics of thalassemia gene among high-risk populations in Sanya City,and to evaluate the effectiveness of blood routine screening,in order to provide scientific basis for formulating measures for prevention and control of thalassemia in Sanya City.Methods Retrospective analysis was used to collect detection results and clinical data from high-risk individuals who completed genetic screening for thalassemia at Sanya Materal and Child Health Hospital from January 2019 to August 2021.Mutation types and distribution characteristics of thalassemia gene were analyzed,and the missed detection rate and sensitivity of blood routine indicators[mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)]were evaluated based on the results of genetic screening for thalassemia.Results A total of 5760 high-risk individuals were included in the screening results of thalassemia genes,and 3868 samples of thalassemia gene mutations were detected,with a detection rate of 67.15%.Among them,there were 2979 samples withα-thalassemia genetic mutations,with a detection rate of 51.72%;including 2966 common genotype samples(99.56%),the main genotype wasαα/-α^(3.7)(20.14%,600/2979);13 rare genotype samples(0.44%),4 cases ofαα/--^(THAI),3 cases ofα^(CD40(AAG>AA-))α/αα,2 cases ofα^(PP)α/αα,and 1 case of Fusion gene/αα,Fusion gene/α^(WS)α,α^(WS)α/α^(PP)α,andα^(CD40(AAG>AA-))α/α^(WS)αeach.There were 340 samples withβ-thalassemia gene mutations,with a detection rate of 5.90%;including 336 common genotype samples(98.82%).Theβ^(CD41/42)/β^(N)genotype was dominant(57.65%,196/340);4 rare genotype samples(1.18%),β^(CD5(-CT))/β^(N),β^IVS-Ⅱ-2(-T))/β^(N),β^(IVS-Ⅱ-761(-T))/β^(N)andβInitiation(ATG>AGG)/β^(N)1 case each.There were 549 samples ofαβ-compound type thalassemia,with a detection rate of 9.53%.Theαmissing recombinationβ^(CD41/42)genotype was dominant(61.02%,335/549).There were a total of 4226 samples that could be traced back to MC
作者
田秀娟
谭美华
孙婷
陈仕平
焦波
黄春荣
陈丽婷
谢丹
于英
Tian Xiujuan;Tan Meihua;Sun Ting;Chen Shiping;Jiao Bo;Huang Chunrong;Chen Liting;Xie Dan;Yu Ying(Antenatal Diagnosis Center,Shanghai Children's Medical Center,Hainan Branch,Affiliated to Shanghai Jiao Tong University School of Medicine,Hainan 572000,China;Hainan BGI Technology Co.,Ltd,Hainan 570311,China;Department of Obstetric,Shanghai Children's Medical Center,Hainan Branch,Affiliated to Shanghai Jiao Tong University School of Medicine,Hainan 572000,China;Department of Pediatrics,Shanghai Children's Medical Center,Hainan Branch,Affiliated to Shanghai Jiao Tong University School of Medicine,Hainan 572000,China)
出处
《中华地方病学杂志》
CAS
北大核心
2023年第9期710-715,共6页
Chinese Journal of Endemiology
基金
金椰种子项目(JYZZ-ZD-202102)
海南省自然科学基金(823RC617)。
关键词
地中海贫血
基因筛查
基因型
血常规
Thalassemia
Genetic screening
Genotype
Blood routine
