摘要
目的了解深圳市龙华区妊娠妇女地中海贫血(Thalassaemia)基因突变类型及分布情况,为该地区预防地中海贫血患儿出生提供科学依据。方法选择2017年9月~2020年5月在深圳市龙华区中心医院产科进行产检的妊娠妇女3106例,检测血常规,对红细胞平均体积(MCV)<80fl和/或红细胞平均血红蛋白含量(MCH)<27 pg的标本做红细胞(RBC)脆性和血红蛋白(Hb)电泳等地中海贫血初筛试验,同时对地中海贫血初筛阳性标本进行α、β地中海贫血基因检测。结果3106例妊娠妇女地中海贫血初筛阳性1071例,阳性率为34.48%,经基因确诊地中海贫血374例,阳性率为12.04%。其中α-地中海贫血206例,阳性率为6.63%,β-地中海贫血135例,阳性率为4.35%,α合并β地中海贫血33例,阳性率为1.06%,α-地中海贫血阳性率明显高于其它地中海贫血,不同类型地中海贫血发病率差异有统计学意义(P<0.01);206例α-地中海贫血检出6种基因缺失型,其中东南亚型缺失--SEA/αα阳性率最高,占60.19%,其次为-α3.7/αα和-α4.2/αα,阳性率分别为22.82%和9.22%,--SEA/αα基因阳性率明显高于其它基因突变型,不同基因缺失型构成比差异有统计学意义(P<0.001);135例β-地中海贫血检出8种基因缺失型,其中CD41-42基因突变检出率最高,占37.78%,其次为IVS-Ⅱ-654和CD28,分别21.48%和12.59%,CD41-42基因突变检出率明显高于其它基因突变型,不同基因突变类型检出率差异有统计学意义(P<0.01);33例α合并β地中海贫血检出12种基因突变型,以--SEA/αα+CD41-42,--SEA/αα+CD28,-α3.7/αα+IVS-Ⅱ-654及--SEA/αα+IVS-Ⅱ-654联合突变为主,阳性率分别为24.24%,18.18%,12.12%和9.09%,还发现1例罕见的-α-4.2/--SEA合并β基因βE位点突变。结论深圳市龙华区妊娠妇女地中海贫血有一定的发病率,基因突变类型十分复杂,且杂合基因突变率呈上升趋势。因此,加强妊娠妇女地中海贫血筛查和基因检查,对杜绝或降低重度地中海贫血患儿的出生具有重要意义。
Objective:To understand the type and distribution of Thalassaemia gene mutation in pregnant women in Longhua District,Shenzhen,and to provide scientific basis for preventing Thalassaemia children from being born in this area.Methods:Choice in September 2017 to May 2020 in Shenzhen Longhua district Central Hospital for prenatal obstetric 3106 cases of pregnant women,testing routine blood,on the average red blood cell volume(MCV)<80 fl red blood hemoglobin content and/or(MCH)<27 pg specimen for red blood cells(RBC)brittleness and hemoglobin(Hb)electrophoresis,such as the Mediterranean anemia early screening test,at the same time at the beginning of the Mediterranean anemia screen positive specimens forα、βthalassemia gene detection.Results:Among the 3106 pregnant women,1071 were positive for Thalassaemia in the preliminary screening,the positive rate was 34.48%,and 374 were confirmed to be thalassaemia by gene,the positive rate was 12.04%.Among themα-Thalassaemia were 206 cases,the positive rate was 6.63%,β-Thalassemia were 135 cases,the positive was 4.35%,α-withβ-Thalassemia were 33 cases,the positive was 1.06%,the positive rate was significantly higher than other thalassemia,the incidence of different types of Thalassemia was statistically significant(P<0.001).Among the 206 cases ofα-Thalassaemia with 6 deletion types,the southeast Asian deletion had the highest positive rate of--SEA/αα,accounting for 60.19%,followed by-α3.7/ααand-α4.2/αα,with the positive rate of 22.82%and 9.22%,respectively.The positive rate of--SEA/ααwas significantly higher than that of other genotypes.eight kinds of genotype missing were detected in 135 cases ofβ-thalassaemia,The CD41-42 gene mutation detection rate is highest,accounting for 37.78%,followed by IVS-Ⅱ-654 and CD28,21.48%and 12.59%,respectively,CD41-42 gene mutation detection rate is significantly higher than other gene mutation type,different gene mutation detection rate difference was statistically significant(P<0.01);33 cases of merger ofα-withβ-thalassaemia detection type 12 kinds of mutations,in--SEA/αα+CD41-42,--SEA/αα+CD28,-α3.7/αα+IVS-Ⅱ-654及--SEA/αα+IVS-Ⅱ-654 combined mutation is given priority to,positive rate were 24.24%,18.18%,12.12%and 9.09%,also found a rare case of-α-4.2/--SEA+βE gene locus mutation.Conclusion:There is a certain incidence of thalassaemia in pregnant women in Longhua District of Shenzhen city,the type of gene mutation is very complex,and the mutation rate of heterozygous genes is on the rise.Therefore,strengthening the screening and genetic examination of pregnant women for thalassemia is of great significance to prevent or reduce the birth rate of children with severe thalassemia.
作者
杨若云
胡楷冕
陈叶珍
刘景娴
YANG Ruoyun;HU Kai-mian;CHEN Ye-zhen;LIU Jing-xian(Clinical Laboratory of Longhua District Central Hospital,Shenzhen,Guangdong 518109)
出处
《中国优生与遗传杂志》
2020年第8期914-916,957,共4页
Chinese Journal of Birth Health & Heredity