重庆地区34800例育龄期夫妇异常血红蛋白病分析  

Analysis of 34800 cases of Abnormal Hemoglobinopathy in Couples of Child-bearing Age in Chongqing Area

作　　者：李春莉[1] 杨梅 李秋红[1] LI Chun-Li;YANG Mei;LI Qiu-Hong(Department of Clinical Laboratorial Medicine,Chongqing Municipal Hospital for Women and Children,Chongqing 400010,China;Department of Clinical Laboratorial Medicine,The Fourth People′s Hospital of Chengdu,Chengdu 610036,Sichuan Province,China)

机构地区：[1]重庆市妇幼保健院检验科,重庆401174 [2]成都市第四人民医院检验科,四川成都610036

出　　处：《中国实验血液学杂志》2020年第4期1316-1320,共5页Journal of Experimental Hematology

基　　金：重庆市妇幼保健院院级课题(2019YJMS06)。

摘　　要：目的:分析重庆地区育龄期夫妇异常血红蛋白病的发生情况。方法:对2015年1月-2018年9月34800例育龄期夫妇进行地中海贫血筛查,利用毛细管电泳进行血红蛋白分析,利用PCR-流式荧光杂交法检测常见α和β地中海贫血基因。结果:34800例育龄期夫妇检出8种异常血红蛋白病200例,检出率为0.57%,其中Hb E检出90例占45.0%;Hb D检出25例,占12.5%;Hb NewYork检出25例,占12.5%;Hb J-bangkok 25例,占12.5%;Hb Q-Thailand 16例,占8.0%;Hb Hope 15例,占7.5%;Hb S 3例,占1.5%;Hb Hasharon 1例,占0.5%;Hb E和Hb Q-Thailand血细胞分析参数显示,平均红细胞体积(MCV)和红细胞平均血红蛋白量(MCH)低于正常参考范围。结论:重庆地区异常血红蛋白病检出率高于我国平均水平。毛细管电泳可有效地筛查出异常血红蛋白病,对优生优育和提高人口素质具有重要的意义。Objective:To explore the abnormal hemoglobinopathy in couples of child-bearing age in Chongqing.Methods:A total of 34800 subjects of child-bearing age were screened for thalassemia by using capillary electrophoresis from January 2015 to September 2018.PCR-flow cytometry fluorescence hybridization assay was used to detect the common thalassemia gene deletions and mutations.Results:8 kinds of abnormal hemoglobinopathy were detected in 200 cases from 34800 subjects of child-bearing age,the detection rate was 0.57%in couples of child-bearing age in Chongqing:Among 200 cases of abnormal hemoglobin pathy,Hb E was found in 90 cases(accounting for 45.0%),and Hb D in 25 cases(accounting for 12.5%).Hb NewYork was found in 25 cases(accounting for 12.5%).HbJ-bangkok was found in 25 cases(accounting for 12.5%),and Hb Q-Thailand in 16 cases(accounting for 8.0%).Hb Hope was detected in 15 cases(accounting for 7.5%).Hb S was detected in 3 cases(accounting for 1.5%).Hb Hasharon was detected in 1 case(accounting for 0.5%).The mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)of Hb E and Hb Q-Thailand were lower than normal reference intervals.Conclusion:The detection rate of abnormal hemoglobinopathy in Chongqing is higher than the average level in China.Capillary electrophoresis can effectively screen abnormal hemoglobinopathy,which is great significant for aristogenesis and improvement of population quality.

关 键 词：异常血红蛋白病 育龄期 地中海贫血筛查 

分 类 号：R556.6[医药卫生—血液循环系统疾病]