川东北地区3089例育龄期人群地中海贫血基因筛查结果分析  

Analysis on results of genetic screening for thalassemia in 3089 childbearing age populations in Northeast Sichuan Area

作　　者：何城[1] 彭韵霖 何勇均 宋琪玲[1,2] 王希月 张婷 张国元 蔡燕[1,2,4] HE Cheng;PENG Yunlin;HE Yongjun;SONG Qiling;WANG Xiyue;ZHANG Ting;ZHANG Guoyuan;CAI Yan(Genetic and Prenatal Diagnosis Center,The Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China;School of Laboratory Medicine,North Sichuan Medical College,Nanchong 637000,Sichuan,China;Department of Clinical Laboratory,The Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China;Translational Medicine Research Center,North Sichuan Medical College,Nanchong 637000,Sichuan,China)

机构地区：[1]川北医学院附属医院遗传与产前诊断中心,四川南充637000 [2]川北医学院检验医学院,四川南充637000 [3]川北医学院附属医院检验科,四川南充637000 [4]川北医学院转化医学研究中心,四川南充637000

出　　处：《西部医学》2024年第9期1360-1364,1370,共6页Medical Journal of West China

基　　金：南充市科技局2022年度市校合作科技战略合作项目(22SXQT0239)。

摘　　要：目的通过分析地中海贫血基因筛查结果,了解川东北地区育龄期人群中地中海贫血基因携带情况,为本地区地中海贫血的一级和二级防控提供实验室依据。方法回顾性分析2023年度在川北医学院附属医院进行地中海贫血基因筛查的3089例育龄期男女的基因检测、血常规和血红蛋白电泳结果,对地贫基因检测阴性而后两种方法检测结果异常者行罕见地中海贫血基因测序;选取其中22例血常规和血红蛋白电泳结果正常而本院基因检测结果提示为-ɑ3.7杂合缺失的标本进行HKɑɑ及ɑ三联体检测。结果3089标本中共检出370例地中海贫血基因携带者,阳性率为11.98%(370/3089),ɑ-地贫基因携带者194例(52.43%),β-地贫基因携带者166例(44.86%),最常见的基因型为--^(SEA)/ɑɑ、-ɑ^(3.7)/ɑɑ、β^(CD41-42M)/β^(N)、β^(CD17M)/β^(N)和β^(IVS-II-654M)/β^(N);罕见地贫基因测序标本中有1例为ɑɑɑ^(anti4.2),1例为β^(IVS-II-654M)杂合变异,4例为δ-地贫,1例为δ-地贫复合nd-HPFH,3例为结构异常血红蛋白,1例为HBB基因良性变异;PCR结果提示22例待测标本中有4例HKɑɑ。结论本地区育龄人群中的地中海贫血基因携带率较高,基因型复杂,应重视罕见地中海贫血基因和HKɑɑ的检测。Objective To understand the genotype and distribution characteristics of thalassemia genes in the childbearing age population through analyzing the results of genetic screening in our hospital,which will provide the laboratory evidence for the primary and secondary prevention of thalassemia in Northeast Sichuan area.Methods A retrospective analysis was done on the results of 3089 childbearing age persons,who conducted the genetic testing of thalassaemia,blood routine,and hemoglobin electrophoresis in our hospital during 2023.Rare thalassemia gene sequencing was performed on those who with negative results of thalassemia gene but having abnormal results of blood routine or/and hemoglobin electrophoresis.The HKɑɑandα-globin gene triplet testing was conducted for 22 samples with the genotype of-ɑ3.7/ɑɑ,while the results of blood routine and hemoglobin electrophoresis were normal.Results 370 carriers were detected in 3089 specimens,with a positive rate of 11.98%(370/3089),among them 194 cases(52.43%)wereɑ-thalassemia and 166 cases(44.86%)wereβ-thalassemia.The most common genotypes were--^(SEA)/ɑɑ、-ɑ^(3.7)/ɑɑ、β^(CD41-42M)/β^(N)、β^(CD17M)/β^(N) and β^(IVS-II-654M)/β^(N).Oneɑɑɑanti4.2,oneβ^(IVS-II-654M),fourδ-thalassemia,oneδ-thalassemia complex with nd-HPFH,three structurally abnormal hemoglobin and one benign mutation of HBB gene were sequenced by the Rare thalassemia gene testing.Four cases of HKɑɑwere tested by PCR method from 22 specimens.Conclusion The rate of thalassemia gene carrying is relatively high among the childbearing age population in this region,and the genotypes are complex.Therefore,more attention should be paid to rare thalassemia gene testing,and HKɑɑdetection.

关 键 词：地中海贫血 基因突变 聚合酶链反应 基因筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]