佛山市南海区2300例孕妇地中海贫血筛查结果及基因突变类型分析

目的了解佛山市南海区孕妇地中海贫血筛查结果及基因突变类型,为预防地中海贫血患儿出生提供依据。方法选取2013年1月至2018年12月于佛山市南海区第二人民医院行产前检查的孕妇2300例,采用全自动血细胞分析仪检测血常规,采用红细胞(RBC)脆性试验和血红蛋白(Hb)电泳试验进行地中海贫血初筛,对初筛阳性标本采用聚合酶链式反应(PCR)结合膜杂交法进行α-地中海贫血和β-地中海贫血基因检测,对检测结果进行统计分析。结果 2300例孕妇地中海贫血初筛阳性750例,阳性率为32.61%;经基因确诊地中海贫血孕妇211例,阳性率为28.13%。其中,α-地中海贫血孕妇113例,阳性率为53.56%;α-地中海贫血基因缺失以--^SEA/αα缺失为主,阳性率为66.37%,其次为-α^3.7/αα、-α^4.2/αα,阳性率分别为20.35%、7.96%。β-地中海贫血孕妇82例,阳性率为38.86%;β-地中海贫血基因突变以CD41-42突变为主,阳性率为39.02%,其次为IVS-Ⅱ-654、CD17,阳性率分别为29.27%、14.63%。α合并β-地中海贫血16例,阳性率为7.58%;α合并β-地中海贫血基因突变以--^SEA/αα+CD41-42、--^SEA/αα+CD28、--^SEA/αα+IVS-Ⅱ-654和-α^3.7/αα+IVS-Ⅱ-654杂合突变为主,阳性率分别为25.00%、12.50%、12.50%、12.50%。结论佛山市南海区孕妇地中海贫血有一定的发病率,α-地中海贫血基因缺失以--^SEA/αα为主,β-地中海贫血基因突变以CD41-42为主,且杂合基因突变率有上升趋势,加强本地区孕妇产前地中海贫血筛查和基因诊断对预防重症地中海贫血胎儿的出生起至关重要的作用。

Analysis of thalassemia screening results and gene mutation types of 2300 pregnant women in nanhai district of foshan city

Objective:To understand the screening results and gene mutation types of thalassemia among pregnant women in Nanhai District of Foshan City,and to provide evidence for preventing the birth of children with thalassemia.Methods:2300 pregnant women who underwent prenatal examination in the Second People′s Hospital of Nanhai District of Foshan City from January 2013 to December 2018 were selected.Blood routine was detected by automatic blood cell analyzer.Thalassemia was screened by erythrocyte(RBC)fragility test and hemoglobin(Hb)electrophoresis test.Polymerase chain reaction(PCR)combined with membrane hybridization was used to detect α-Thalassemia.Anemia and β-thalassemia gene detection,the results of statistical analysis.Results:750 of 2300 pregnant women with thalassemia were screened positive,the positive rate was 32.61%.211 pregnant women with thalassemia were diagnosed by gene,the positive rate was 28.13%.Among them,113 pregnant women with α-thalassemia had positive rate of 53.56%.The main gene deletion of alpha-thalassemia was--^SEA/αα deletion,with a positive rate of 66.37%,followed by-α^3.7/αα,-α^4.2/αα,with a positive rate of 20.35% and 7.96%,respectively.82 pregnant women with beta-thalassemia had positive rate of 38.86%.CD41-42 mutation was the dominant mutation in beta-thalassemia,with a positive rate of 39.02%,followed by IVS-Ⅱ-654,CD17,with a positive rate of 29.27% and 14.63%,respectively.There were 16 cases of α combined with β-thalassemia,the positive rate was 7.58%.The main mutations of α combined with β-thalassemia gene were--^SEA/αα+CD41-42,--^SEA/αα+CD28,--^SEA/αα+IVS-Ⅱ-654,-α^3.7/αα+IVS-Ⅱ-654 heterozygous mutations.The positive rates were 25.00%,12.50%,12.50% and 12.50% respectively.Conclusion:There is a certain incidence of thalassemia among pregnant women in Nanhai District of Foshan City.The main gene deletion of α-thalassemia is--^SEA/αα.The mutation of β-thalassemia gene is CD41-42.The mutation rate of heterozygous gene is on the rise.Strengthening prenatal screening and gene diagnosis of thalassemia among pregnant women in this area plays an important role in preventing the birth of fetuses with severe thalassemia.