不同地中海贫血筛查方案的效果分析  

Analysis of screening effects of different screening schemes for thalassemia

作　　者：裴元元 朱雁媚 欧德标 冉健 刘维强 PEI Yuanyuan;ZHU Yanmei;OU Debiao;RAN Jian;LIU Weiqiang(Longgang District Maternity&Child Healthcare Hospital of Shenzhen City/Longgang Maternity and Child Institute of Shantou University Medical College,Shenzhen,Guangdong 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院,广东深圳518172

出　　处：《中国优生与遗传杂志》2024年第9期1910-1913,共4页Chinese Journal of Birth Health & Heredity

基　　金：深圳市龙岗区出生缺陷预防重点实验室项目(LGKCZSYS2018000010);深圳市龙岗区科技创新专项资金医疗卫生技术攻关项目(LGKCYLWS2022022)。

摘　　要：目的研究不同地中海贫血筛查方案对筛查结果的影响,为优化本地方案提供参考依据。方法以2020年1月至2023年6月在深圳市龙岗区进行地贫筛查的14843对孕妇夫妇为研究对象。回顾性分析各血液学指标,评价4种筛查方案的优劣。孕妇夫妇同时行血常规检查,若一方MCV或MCH出现异常时,双方将共同进行血红蛋白电泳检测,若双方(方案1)/一方(方案2)血红蛋白电泳异常,则双方均进行地中海贫血基因的检测。孕妇夫妇同时进行血常规及血红蛋白电泳检查,若双方(方案3)/一方(方案4)MCV或MCH或血红蛋白电泳异常,则双方均进行地中海贫血基的检测。结果14843对孕妇夫妇中共检出647对同型地贫孕妇夫妇,其中293对有生育中重型地贫儿风险需产前诊断。4个方案筛查地中海贫血的特异度排序为:方案1>方案3>方案2>方案4,且差异有统计学意义,成本由高到低分别为:方案4>方案2>方案3>方案1。结论考虑到深圳地区的地中海贫血携带率及经济形势,方案2和方案3可供选择。Objective Study the impact of different screening schemes for thalassemia on screening results,and provide reference basis for optimizing local schemes.Methods 14843 pregnant couples who underwent thalassemia screening in Longgang District of Shenzhen between January 2020 and June 2023 were selected as the research subjects.Retrospective analysis of various hematological indicators and evaluation of the advantages and disadvantages of four screening schemes.Pregnant couples should undergo blood routine tests simultaneously.If one party’s MCV or MCH is abnormal,both parties should undergo hemoglobin electrophoresis simultaneously.If both parties(Plan 1)/one party(Plan 2)have abnormal hemoglobin electrophoresis,both parties should undergo genetic testing for thalassemia simultaneously.Pregnant couples should undergo both blood routine and hemoglobin electrophoresis tests simultaneously.If both parties(Plan 3)/one party(Plan 4)have abnormal MCV or MCH or hemoglobin electrophoresis,both parties should also undergo genetic testing for thalassemia.Results Among 14843 pregnant couples,a total of 647 cases of homozygous thalassemia were detected,of which 293 pairs with moderate to severe risk of thalassemia childbirth require prenatal diagnosis.The specificity ranking of the four plan for screening thalassemia is:Plan 1>Plan 3>Plan 2>Plan 4,and the difference is statistically significant.The cost from high to low is:Plan 4>Plan 2>Plan 3>Plan 1.Conclusion Considering the prevalence of thalassemia in Shenzhen and the economic situation,plan 2 and 3 are available for selection.

关 键 词：孕妇夫妇 地中海贫血筛查 全血细胞计数 血红蛋白电泳分析 地中海贫血基因检测 

分 类 号：R556.61[医药卫生—血液循环系统疾病]