中国福建泉州地区育龄夫妇地中海贫血基因分析及产前诊断

目的:了解福建泉州地区育龄夫妇地中海贫血(简称地贫)基因型及产前诊断干预情况。方法:对2017年7月-2020年7月泉州地区76 328对婚检或优检夫妇行血常规及血红蛋白电泳检测初筛,初筛阳性夫妇进一步行地贫基因检测。检出同型地贫基因携带的夫妇于孕中期行介入性产前诊断。结果:76 328对育龄夫妇中,地贫初筛阳性1 809对,阳性率约2.37%。1 809对地贫初筛阳性夫妇基因检查结果显示,检出α-地贫985例,其中以--^SEA/αα携带为主,其次为-α^3.7/αα和αα^QS/αα;检出β-地贫296例,以654M/N和41-42M/N携带为主;检出α复合β-地贫26例;检出3例罕见地贫(--THAI/αα、SEA-HPFH和-α^6.9/--^SEA)。检出108对同型地贫携带夫妇,检出率约5.97%。108对同型地贫携带者夫妇中,同型α-地贫96对,同型β-地贫血9对,一方为α复合β-地贫的同型携带夫妇3对。其中,17对同型α地贫携带夫妇于孕中期行产前诊断,检出巴氏水肿胎1例,Hb H病3例,静止型或轻型α-地贫9例,健康胎儿4例。胎儿染色体核型检测结果显示,16例核型结果正常,1例核型结果为唐氏综合征。结论:婚前和孕前地贫筛查及产前诊断能够有效防止中、重型地贫患儿的出生,行地贫产前基因诊断同时需行染色体核型分析,避免染色体异常患儿出生。

Genetic Analysis and Prenatal Diagnosis of Thalassemia in Couples of Childbearing Age in Quanzhou Region Fujian Province,China

Objective:To explore the genotypes and prenatal diagnosis of thalassemia in couples of childbearing age in Quanzhou,Fujian Province.Methods:Blood routine and hemoglobin electrophoresis were performed for initial thalassemia screening in 76328 couples in Quanzhou region from July 2017 to July 2020.The couples with positive initial screening results further underwent thalassemia gene test.Couples carrying homotypic thalassemia genes underwent prenatal diagnosis in the second trimester.Results:Among 76328 couples of childbearing age,1809 couples of positive initial thalassemia screening were identified,with the positive rate about 2.37%.Further results of genetic detection of the 1809 couples showed that 985 cases were diagnosed asα-thalassemia,of which--^SEA/ααwas the most frequency,followed by-α^3.7/ααandαα^QS/αα;296 cases were diagnosed asβ-thalassemia,the most frequency mutations were 654 M/N and 41-42 M/N;26 cases of compoundαandβ-thalassemia were detected.In addition,3 rare cases of thalassemia were detected,including--^THAI/αα,SEA-HPFH,and-α^6.9/--^SEA.Among them,108 couples were confirmed as homologous thalassemia,with the detection rate about 5.97%,including 96 couples of homologousα-thalassemia,9 couples of homologousβ-thalassemia,and 3 couples with one had compoundα-andβ-thalassemia.Among them,17 couples with homologousα-thalassemia underwent prenatal diagnosis in the second trimester,of which1 case of Hb Bart’s Hydrops Syndrome,3 cases of HbH disease,9 cases of silent thalassemia orα-thalassemia minor,and 4 cases of healthy fetuses were detected.Fetal chromosome karyotype analysis showed that 16 cases were normal and1 case diagnosed as Down syndrome.Conclusion:Thalassemia screening in pre-marital and pre-pregnancy,and prenatal diagnosis can effectively reduce the birth of children with thalassemia intermediate and thalassemia maj or.It is necessary to perform chromosome karyotype analysis at the same time as prenatal diagnosis of thalassemia gene in order to avoid fetus with abnormal chromosome.