MCV、MCH用于地中海贫血筛查的能效验证  

Energy-efficiency validation of MCV and MCH for thalassemia screening

作　　者：唐腊梅 何敬[3] 刘栋宾 胡敏[1] TANG La-mei;HE Jing;LIU Dong-bin;HU Min(The Second Xiangya Hospital,Central South University,Changsha,Hunan 410011,China;Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410008,China;The Second Affiliated Hospital of Hunan University of Traditional Chinese Medicine,Changsha,Hunan 410005,China)

机构地区：[1]中南大学湘雅二医院,湖南长沙410011 [2]湖南省妇幼保健院,湖南长沙410008 [3]湖南中医药大学第二附属医院,湖南长沙410005

出　　处：《实用预防医学》2022年第9期1080-1084,共5页Practical Preventive Medicine

摘　　要：目的分析地中海贫血不同基因型MCV、MCH值,参照2020年地中海贫血妊娠期管理专家共识(简称共识),验证共识MCV、MCH截断值的筛查能效,为临床诊疗及遗传咨询提供数据参考。方法选取2016年10月—2021年2月在湖南省妇幼保健院进行婚检、孕检对象,以全自动血细胞分析仪检测MCV、MCH,Gap-PCR检测三种常见缺失型α地贫突变,RDB-PCR检测三种常见α地贫点突变和17种常见β地贫点突变,收集地贫基因检测阳性样本数据3234例进行统计分析。结果3234例地贫阳性样本中,血常规MCV、MCH值随着地贫临床分型的加重逐渐降低,静止型a地贫及轻型地贫αCSα/αα、CAPM/N基因型MCV、MCH均值均高于共识截断值,漏检率分别为61.73%、79.37%、100.00%;轻型β地贫βEM/N基因型MCV、MCH均值位于共识截断值附近,漏检率35.00%;其他基因型(除外个别复合地贫)MCV、MCH均值都低于共识准截断值,漏检率0%-5%左右。结论不同地贫基因型MCV、MCH值有相应的取值范围,根据共识推荐的截断值(MCV<82 fl和(或)MCH<27 pg)筛查地贫携带者,可能导致静止型地贫及轻型地贫αCSα/αα、βEM/N、CAPM/N基因型高漏检,夫妻同步筛查MCV、MCH可以大幅提高只筛查孕妇的筛查能效。Objective To analyze the MCV and MCH values of different genotypes of thalassemia.To verify the screening efficiency of the consensus MCV and MCH cut-off values with reference to the 2020 Expert Consensus on the Management of Thalassemia in Pregnancy(hereinafter referred to as the consensus),and to provide data references for clinical diagnosis,treatment and genetic counseling.Methods We selected the subjects who underwent pre-marriage examination and pregnancy examination in Hunan Provincial Maternal and Child Health Care Hospital from October 2016 to February 2021.MCV and MCH were detected by fully automated blood cell analyzer,three common deletion typeαthalassemia mutations by Gap-PCR,and three commonαthalassemia point mutations and 17 commonβthalassemia point mutations by RDB-PCR.The data about 3,234 samples with positive genetic testing results were collected for statistical analysis.Results Among the 3,234 positive samples of thalassemia,MCV and MCH values gradually decreased with the aggravation of clinical typing of thalassemia.The average values of MCV and MCH of silentα-thalassemia,mild thalassemiaαCSα/ααand CAPM/N genotypes were all higher than the consensus cut-off values,and the missed diagnosis rates were 61.73%,79.37%and 100%,respectively.The mean values of MCV and MCH of mildβthalassemiaβEM/N genotype were near the consensus cut-off values,and the missed diagnosis rate was 35.0%.The mean values of MCV and MCH of the other genotypes(except for individual compound leukemia)were below the consensus cut-off values,and the missed diagnosis rates were about 0%-5%.Conclusion Different thalassemia genotypes have corresponding distribution ranges of MCV and MCH values.Screening of thalassemia carriers according to the consensus recommended cut-off values(MCV<82 fl and/or MCH<27 pg)may lead to high missed diagnosis of silent thalassemia and theαCSα/αα,βEM/N,and CAPM/N genotypes of mild thalassemia.Simultaneous screening of couples for MCV and MCH can substantially improve the screening energ

关 键 词：地中海贫血 基因型 平均红细胞体积 平均红细胞血红蛋白含量 漏检率 

分 类 号：R556[医药卫生—血液循环系统疾病]