应用全自动毛细血管电泳技术对杭州地区地中海贫血的筛查  

Application of automatic capillary electrophoresis in screening for thalassemia in Hangzhou area

作　　者：徐冰 史秀羽 陈宇 XU Bing;SHI Xiuyu;CHEN Yu(Department of Laboratory,Hangzhou Obstetrics and Gynecology Hospital,Hangzhou310008,China)

机构地区：[1]杭州市妇产科医院检验科,浙江杭州310008

出　　处：《中国现代医生》2020年第28期143-146,共4页China Modern Doctor

基　　金：浙江省医药卫生科技计划面上项目(2019KY528)。

摘　　要：目的了解杭州地区地中海贫血的检出情况,探讨产检中筛查地中海贫血的意义,评价平均红细胞体积(MCV)、平均血红蛋白量(MCH)及血红蛋白电泳对地中海贫血进行产前筛查的价值。方法以2019年2月~2020年3月在我院检查的3968例育龄期妇女为研究对象,进行血常规、血红蛋白电泳及β-地贫基因检测。结果筛查3968例育龄期妇女,疑似α-地中海贫血或缺铁性贫血共有366例(9.22%),其中妊娠中晚期孕妇有255例;疑似β-地中海贫血共有19例(0.48%),其中有4例进行β^-地贫基因检测,均被确诊为β^-地中海贫血,分别为β^IVS-II-654/β^N突变1例,β^CD17/β^N突变2例,β^CD41/42/β^N 1例。结论MCV、MCH及血红蛋白电泳可以对地中海贫血进行产前筛查,整体操作较为简便。加强地中海贫血筛查及检测,可以降低出生缺陷,对优生优育具有重要意义。Objective To understand the detection situation of thalassemia in Hangzhou area,to explore the significance of screening for thalassemia during obstetric testing,and to evaluate the value of mean red blood cell volume(MCV),mean hemoglobin volume(MCH)and hemoglobin electrophoresis for prenatal screening of thalassemia.Methods A total of 3968 women of childbearing age examined in our hospital from February 2019 to March 2020 were taken as the research subjects.They underwent blood routine,hemoglobin electrophoresis andβ-thalassaemia genes detection.Results A total of 3968 cases of women of childbearing age were screened.A total of 366 cases(9.22%)were suspected ofα-thalassemia or iron deficiency anemia,including 255 pregnant women in mid-to-late pregnancy.Nineteen cases(0.48%)were suspected ofβ^-thalassemia,of which 4 cases were tested forβ^-thalassemia gene.All were diagnosed withβ^-thalassemia,with 1 case ofβ^IVS-II-654/β^N mutation,2 cases ofβ^CD17/β^N mutation,1 case ofβ^CD41/42/β^N,respectively.Conclusion The MCV,MCH and hemoglobin electrophoresis can be used for prenatal screening of thalassemia,and the overall operation is relatively simple.Strengthening the screening and detection of thalassemia can reduce birth defects and is of great significance for eugenics.

关 键 词：毛细血管电泳仪 地中海贫血 基因诊断 产前筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]