昆明地区β地中海贫血基因检测结果及红细胞参数特点分析  

Analysis of Genetic Test Results and Red Blood Cell Parameters ofβ-Thalassemia in Kunming Area

作　　者：郭晓潞 吴亚敏 张艳亮[2,3,4] GUO Xiao-Lu;WU Ya-Min;ZHANG Yan-Liang(Department of Clinical Laboratory,Maternal and Child Health Hospital of Ruili,Dehong 678600,Yunnan Province,China;Department of Clinical Laboratory Medicine,The First Affiliated Hospital of Kunming Medical University;Yunnan Key Laboratory of Laboratory Medicine;Yunnan Medical Laboratory Clinical Medical Research Center,Kunming 650032,Yunnan Province,China)

机构地区：[1]瑞丽市妇幼保健院检验科,云南德宏678600 [2]昆明医科大学第一附属医院医学检验科 [3]云南省检验医学重点实验室 [4]云南省医学检验临床医学研究中心,云南昆明650032

出　　处：《中国实验血液学杂志》2025年第2期481-485,共5页Journal of Experimental Hematology

基　　金：云南省“高层次人才培养支持计划”青年拔尖人才专项(YNWR-QNBJ-2019-159);昆明医科大学第一附属医院“535”高层次人才学科带头人(2023535D08)。

摘　　要：目的:了解昆明地区人群地中海贫血基因携带率和基因型分布特点,并比较β^(+)、β^(0)杂合突变携带者与健康人群之间红细胞参数的差异,以及18-45岁成人不同性别间红细胞参数的差异。方法:回顾性分析2020年4月1日至2022年3月31日于昆明医科大学第一附属医院筛查地贫基因的病例3195例,采用荧光PCR熔解曲线法检测中国人常见的β珠蛋白基因21个位点突变型。将携带β-地贫基因的单纯杂合子患者分为β^(+)杂合子组、β^(0)杂合子组,对照组为体检健康人群219例,收集红细胞计数(RBC)、血红蛋白浓度(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)4项指标数据,比较β^(+)、β^(0)杂合子组与对照组4个红细胞参数的差异,以及在18-45岁之间β^(+)、β^(0)杂合子与健康人群不同性别间红细胞参数的差异。结果:确诊地贫基因携带者688例,占21.53%;包含β珠蛋白基因突变322例,其中β^(+)杂合子145例,β^(0)杂合子151例,β^(+)纯合以及β^(+)和β^(0)双重杂合14例;β珠蛋白和α珠蛋白同时突变或缺失12例。β^(+)地贫以CD26 G>A突变型携带率最高,占57.9%;β^(0)地贫以CD17 A>T突变型携带率最高,占46.4%。将检出的296例β-地贫杂合突变携带者红细胞参数与正常参考区间比较,发现RBC大于参考区间最高值有218例,Hb、MCV、MCH小于参考区间最低值分别为105、281、269例。β^(+)、β^(0)杂合突变携带者与健康人群比较,4个红细胞参数均具有显著性差异(均P<0.001),进一步不同性别间比较亦有显著差异(均P<0.001)。结论:昆明地区人群的地贫基因携带率、β杂合子地贫基因型携带率均处于较高水平,β^(+)、β^(0)杂合子携带者与健康人群红细胞参数有显著性差异。在进行遗传咨询时,应做好告知工作,在处于适婚年龄的成人中应该加强筛查,以预防重型地贫患儿出生。Objective:To investigate the gene carrier rate and genotype distribution characteristics of thalassemia in the population of Kunming,and compare the differences of red blood cell(RBC)parameters betweenβ^(+)heterozygous carriers,β^(0)heterozygous carriers and healthy population,as well as between different sexes of adults aged 18-45 years.Methods:A retrospective analysis of 3195 cases of thalassemia gene screened in the First Affiliated Hospital of Kunming Medical University from April 1,2020 to March 31,2022 was performed to detect 21 mutations ofβ-globin genes which was common in Chinese people using fluorescence PCR melting curve method.Patients with single heterozygous carryingβ-thalassemia gene were divided intoβ^(+)heterozygote group andβ^(0)heterozygote group,while the control group consisted of 219 healthy individuals.Four indices,including RBC,hemoglobin(Hb),mean corpuscular volume(MCV),and mean corpuscular hemoglobin(MCH)were collected from allβheterozygous carriers and 219 healthy people,and compared betweenβ^(+)heterozygote group,β^(0)heterozygote group and control group,as well as betweenβ^(+)heterozygous carriers,β^(0)heterozygous carriers and healthy population of different sexes aged 18-45 years.Results:There were 688 cases confirmed thalassemia gene carriers,accounting for 21.53%.Among them,322 cases were found to haveβ-globin gene mutations,including 145 cases ofβ^(+)heterozygote,151 cases ofβ^(0)heterozygote,and 14 cases ofβ^(+)homozygotes as well asβ^(+)andβ^(0)dual heterozygotes.Additionally,12 cases were found to have simultaneous mutation or deletion ofβ-globin andα-globin.The carrier rate of CD26 G>A mutation inβ^(+)thalassemia was the highest,accounting for 57.9%,while inβ^(0)thalassemia CD17 A>T was the highest,accounting for 46.4%.The erythrocyte parameters of 296βheterozygous mutation carriers were compared with the normal reference interval,and it was found that 218 cases with RBC value greater than the highest value of reference interval,while 105,281,and 269 cas

关 键 词：Β地中海贫血 基因型 血液学表型 基因突变 红细胞参数 

分 类 号：R556.61[医药卫生—血液循环系统疾病]