Screening for thalassemia and analysis of gene test results in 41 026 couples of childbearing age in Quanzhou City Fujian Province
10.3760/cma.j.issn.2095-4255.2019.08.005
- VernacularTitle:福建省泉州市41026对育龄夫妇地中海贫血筛查及基因检测结果分析
- Author:
Jianlong ZHUANG
1
;
Yuanbai WANG
;
Qianmei ZHUANG
;
Shuhong ZENG
;
Geng WANG
;
Yuying JIANG
Author Information
1. 福建省泉州市妇幼保健院儿童医院产前诊断中心 362000
- Keywords:
Thalassemia;
Couples of childbearing age;
Gene testing
- From:
Chinese Journal of Endemiology
2019;38(8):623-627
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the screening and gene test of thalassemia in couples of childbearing age in Quanzhou City Fujian Province.Methods A prospective design was used to collect 41 026 pairs of marriage and excellent blood samples from 12 counties in Quanzhou City,Fujian Province from July 2017 to July 2018.To analyze screened the genetic test results and genotyping of positive thalassemia couples.Firstly,the erythrocyte mean corpuscular volume (MCV) and erythrocyte mean corpuscular hemoglobin (MCH) were used for primary screening.Both sides of the couple were performed hemoglobin electrophoresis when at least one of the couples was screened positive.Couples were performed thalassemia gene detection when blood routine or hemoglobin electrophoresis of the couples was positive.The characteristics of genotypes,homologous carriers and distribution of gene mutations in Quanzhou City were analyzed.Results Among 41 026 couples of childbearing age,4 470 couples had abnormal blood routine examination results in at least one of the couples,the rate of positive screening was 10.90％.There were 952 couples who represented abnormal blood routine or hemoglobin abnormal electrophoresis.Totally 658 cases were diagnosed as thalassemia after thalassemia gene detection,and the diagnosis rate was 34.56％.Totally 493 cases of α-thalassemia were detected,and the higher genotypes were:--SEA/αα,-α3.7/αα and ααQS/αα;and 155 cases of β-thalassemia were detected,and the higher genotypes were:IVS-Ⅱ-654/N,CD41-42/N,CD17/N,βE/N,-28/N;10 cases of α complex β thalassemia were detected.Totally 56 high-risk couples with homologous thalassemia gene were detected,including 50 pairs of homologous α-thalassemia,4 pairs of homologous β-thalassemia,and 2 pairs of homologous couples with α complex β thalassemia.The rate of diagnosis and detection rate of homologous thalassemia in different counties of Quanzhou were quite different (x2 =41.939,21.129,P ＜ 0.05).Among them,the rate of diagnosis in Dehua County was the highest (53.13％,85/160),followed by Yongchun County (39.38％,63/160) and Nan'an City (37.73％,123/326).In addition,the detection rate of homologous thalassemia in Dehua County was the highest (15.00％,12/80),followed by Anxi County (8.44％,13/154) and Yongchun County (7.50％,6/80).Conclusions The incidence of thalassemia in couples of childbearing age in Quanzhou is higher,mainly due to α-thahssemia.The high-risk type of homologous carrier is present in α-thalassemia,which should be paid attention to the prevention and control of thalassemia.
