地中海贫血防控试点项目实施效果分析  

Analysis on the implementation effect of thalassemia prevention and control pilot project

作　　者：张黎仙 庄建龙 俞柳敏[3] 王康英[3] 林堃 ZHANG Lixian;ZHUANG Jianlong;YU Liumin;WANG Kangying;LIN Kun(Prenatal Diagnosis Center,Putian Maternal and Child Health Hospital,Putian,Fujian 351100,China;Prenatal Diagnosis Center,Quanzhou Maternal and Child Health Hospital,Quanzhou,Fujian 362000,China;Prenatal Diagnosis Center,the Affiliated Hospital of Putian,University,Putian,Fujian 351100,China)

机构地区：[1]莆田市妇幼保健院新生儿疾病筛查中心,福建莆田351100 [2]泉州市妇幼保健院产前诊断中心,福建泉州362000 [3]莆田学院附属医院产前诊断中心,福建莆田351100

出　　处：《现代医药卫生》2022年第19期3270-3273,共4页Journal of Modern Medicine & Health

基　　金：福建省莆田市科学技术局科技项目(2020S3F002)。

摘　　要：目的通过分析婚检夫妇地中海贫血(地贫)筛查与诊断相关临床资料与实验室数据,评价福建省莆田市实施地贫防控项目的成效。方法回顾性分析2017年4月至2021年12月在福建省莆田市参加婚检的62058对新婚夫妇和计划怀孕夫妇的血样结果,通过检测平均红细胞比容、平均红细胞血红蛋白浓度进行初筛,当夫妇一方初筛阳性时双方进行血红蛋白(Hb)电泳检测,夫妇双方Hb电泳阳性时双方进行地贫基因检测,统计分析福建省莆田市地贫基因突变类型、罕见地贫发生率、突变分布情况及遗传特点等,绘制福建省莆田地区地贫基因遗传图谱;分析同型基因携带与产前诊断情况,并随访妊娠结局。结果62058对夫妻经血常规筛查至少一方异常者8938对,初筛阳性率为14.40%。筛查阳性夫妻Hb电泳阳性5842例,阳性率为4.71%;夫妇双方Hb电泳均异常者413对。413对夫妻基因检测确诊为地贫316例,确诊率为38.26%,其中α地贫198例,所占比例较高的基因型为--^(SEA)/αα、-α^(3.7)/αα;β地贫114例,所占比例较高的基因型为β^(IVS-II-654)/β^(N)、β^(CD41-42)/β^(N);αβ复合地贫4例。检出地贫同型基因携带高风险夫妇26对,其中同型α地贫18对,同型β地贫8对,6对夫妻中女性接受了产前诊断,其中正常胎儿2例,--^(SEA)/αα1例,β^(IVS-II-654)/β^(N) 2例,--^(SEA)/--^(SEA) 1例,1例重度地贫孕妇选择终止妊娠。结论福建省莆田市地贫防控试点项目能有效减少重度地贫新生儿的出生,提高该地区出生人口素质,并为进一步制定地贫防控计划提供依据。Objective To evaluate the implementation effect of the prevention and control project for thalassemia in Putian by analyzing the clinical and laboratory data related to screening and diagnosis of thalassemia in couples undergoing premarital examination.Methods The blood sample results of 62058 newlywed couples and planned pregnant couples who participated in the premarital examination in Putian City,Fujian Province from April 2017 to December 2021 were retrospectively analyzed.The primary screening was carried out by detecting the average red blood cell volume and average hemoglobin content.When one of the couple was positive,the two sides were tested by hemoglobin(Hb)electrophoresis;When the couple′s Hb electrophoresis was positive,both parties shall performed thalassemia gene detection.The types of thalassemia gene mutations,the incidence of rare thalassemia,the distribution of mutations and the genetic characteristics of thalassemia gene in Putian City,Fujian Province were statistically analyzed,and the genetic map of thalassemia gene in Putian City,Fujian Province was drawn;Homotypic gene carrier and prenatal diagnosis were analyzed,and pregnancy outcomes were followed up.Results Among 62058 couples,8938 had at least one abnormal partner during blood routine screening,and the positive rate of initial screening was 14.40%.A total of 5842 cases were Hb positive,the positive rate was 4.71%.There were 413 couples with abnormal Hb electrophoresis.After gene detection,a total of 316 cases were diagnosed as thalassemia,and the diagnostic rate was 38.26%.A total of 198 cases ofα-thalassemia were detected,and the higher genotypes were--^(SEA)/αα,-α^(3.7)/αα.A total of 114 cases ofβ-thalassemia were detected,and the higher genotypes wereβ^(IVS-II-654)/β^(N),β^(CD41-42)/β^(N).Four cases ofαcomplexβthalassemia were detected.Totally 26 high-risk couples with homologous thalassemia gene were detected,including 18 pairs of homologousα-thalassemia,eight pairs of homologousβ-thalassemia.Among them,women in si

关 键 词：地中海贫血 婚前检查 基因型 福建 

分 类 号：R556.7[医药卫生—血液循环系统疾病]