地中海贫血产前遗传筛查流程简化的风险评估  

The risk assessment of prenatal genetic screening procedure simplified for thalassemias

作　　者：肖奇志[1] 李恋湘 谢建红[1] 李磊[1] 王格[1] 张婧惟[1] 龙若庭[1] 周玉球[1] 

机构地区：[1]珠海市妇幼保健院检验科&珠海市医学遗传研究所,广东珠海519001

出　　处：《分子诊断与治疗杂志》2016年第5期336-340,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广东省科技计划项目(2009A030301002);珠海市卫生和计划生育局医学科研项目(2014062)

摘　　要：目的评估全血细胞分析(full blood count,FBC)结合常见地中海贫血(简称地贫)基因检测(简称两步法)取代传统的FBC结合血红蛋白(hemoglobin,Hb)分析和地贫基因检测(简称三步法)用于地贫产前遗传筛查的可行性。方法采用回顾性分析的方法,对近2年(2014年1月1日至2015年12月31日)珠海市产前门诊6 291名孕妇及其配偶FBC、Hb分析和地贫基因检测的结果采用x2检验进行统计学分析,比较两步法和三步法在产前地贫遗传筛查中的可靠性及经济性。结果以经典的三步法作为标准,两步法对孕妇及其配偶地贫检测的灵敏度、特异性、阴性预测值和阳性预测值以及总的诊断效率分别为98.25%、99.52%、85.98%、88.12%、91.23%,两步法对血红蛋白H(hemoglobin H,Hb H)病、轻型β-地贫、异常Hb和δβ-地贫/遗传性持续性胎儿血红蛋白综合征(hereditary persistence of fetal hemoglobin,HPFH)的漏检率分别为2.59%(2/77)、0.01%(2/1 695)、8.78%(13/148)和48.30%(43/89)。结论产前地贫遗传筛查流程中采用三步法有其科学性,既可避免Hb H、异常Hb以及δβ-地贫/HPFH等个体的漏检,还可为地贫DNA诊断指明方向。在未建立覆盖中国人异常Hb病基因谱的分子筛查技术之前,两步法暂不能取而代之。Objectives To evaluate the feasibility of prenatal genetic screening for thalassemias by full blood cell analysis（full blood count,FBC） combined with thalassemia gene detection（hereinafter referred to as the two-step method） instead of the FBC combined with hemoglobin（Hb） analysis and thalassemia gene detection（hereinafter referred to as the three-step method）.Methods The results of FBC and Hb analysis as well as molecular diagnosis of thalassemias of 6 291 pregnant women and their spouses from January 1,2014 to December 31,2015,at antenatal clinics of Zhuhai City were analyzed retrospectively by c2 test.The reliability and economic viability of the two-step method were compared with the three-step method of prenatal genetic screening for thalassemias.Results Taking the classic three-step method as a standard,the sensitivity,specificity,negative predictive value and positive predictive value,and accuracy of the two-step method were98.25%,99.52%,85.98%,88.12%,91.23%,respectively.The rate of missed diagnosis of the two-step method to Hb H disease,b-thalassemia trait,Hb variants and δβ thalassemia/hereditary persistence of fetal hemoglobin（HPFH） were 2.59%（2/77）,0.01%（2/1 695）,8.78%（13/148）,and 48.30%（43/89） respectively.Conclusions Prenatal genetic screening process of thalassemia with three-step method has its adavantages.It can avoidfailure of detection of not just Hb H disease and Hb variants but also δβ-thalassemias/HPFH,and what＇s more point to clear direction for DNA diagnosis of thalassemias.The three-step method tentatively can＇t be replaced by the two-step method.

关 键 词：地中海贫血 遗传筛查 表型-基因型 血红蛋白变异体 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]