国际医药卫生导报2016，Vol.22Issue(20)：3061-3063,3073,4.DOI:10.3760/cma.j.issn.1007-1245.2016.20.001
厦门地区2960对育龄夫妇地中海贫血筛查及基因检测结果分析
Thalassaemia screening and genetic testing results in 2960 couples of childbearing age in Xiamen
摘要
Abstract
Objective To initially understand and analyze the prevalence and genetic distribution characteristics of thalassaemia in youths of childbearing age in Xiamen and to provide theory basis for genetic diagnosis,genetic counseling of thalassaemia,and reducing missed diagnosis and misdiagnosis.Methods 2 960 couples of childbearing age who came to our hospital for pregnancy eugenics health check from April,2013 to April,2016 were selected as study objects.Their blood samples were collected for screening tests of routine blood,hemoglobin electrophoresis,serum iron,and ferritin;and the positive patients of screening tests would be conducted thalassaemia genetic testing through "PCR + nylon membrane hybridization method ".Results 1 160 cases (19.59％) out of 2 960 couples of childbearing age had positive results of hematology screening tests;among which,408 cases of thalassaemia gene carriers were checked out(6.89％);there were 286 cases of α thalassaemia gene carriers(4.83％),and the most common thalassaemia genotype was--SEA/αα,accounting for 74.13％ of the total α thalassaemia gene carriers;there were 114 cases of β thalassaemia gene carriers(1.93％),and the most common thalassaemia genotypes were CD41-42 (-TCTT) and IVS-2-654 (C→T),accounting for 34.21％ and 32.46％ of all the β thalassaemia gene carriers,respectively;there were 8 cases of α combined with β thalassaemia gene carriers(0.14％).Conclusions The gene mutation types of thalassaemia are complicated in Xiamen.The most common type of α thalassaemia gene carriers is--SEA/αα.The most common types of β thalassaemia gene carriers are CD41-42 (-TCTT) and IVS-2-654 (C-＞ T).For the patients positive in hematology screening tests,having further thalassaemia genetic diagnosis can avoid missed diagnosis and misdiagnosis,which will better provide basis for clinical thalassaemia diagnosis and genetic counseling.关键词
地中海贫血/α地贫/β地贫/基因突变Key words
Thalassaemia/α thalassaemia/β thalassaemia/Gene mutation引用本文复制引用
陈涌泉,王厚照,张玲,王玮玮,骆园园,杨艳,程玲,蓝惠华..厦门地区2960对育龄夫妇地中海贫血筛查及基因检测结果分析[J].国际医药卫生导报,2016,22(20):3061-3063,3073,4.基金项目
厦门市科技惠民项目(3502Z20144036) Scientific,Technological,People-benefited Project in Xiamen (3502Z20144036) （3502Z20144036）
