联合检测HbA2和HbF对于筛查育龄人群地中海贫血突变携带者的价值  

The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages

作　　者：庄倩梅 王耿 王元白 庄建龙 江矞颖 黄海龙 徐两蒲 Zhuang Qianmei;Wang Geng;Wang Yuanbai;Zhuang Jianlong;Jiang Yuying;Huang Hailong;Xu Liangpu(Prenatal Diagnosis Center,Quanzhou Women’s and Children’s Hospital,Quanzhou,Fujian 362017,China;Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects,Fuzhou,Fujian 350001,China)

机构地区：[1]泉州市妇幼保健院·儿童医院产前诊断中心,福建362017 [2]福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2022年第1期16-20,共5页Chinese Journal of Medical Genetics

基　　金：泉州市科技计划(2020N049S);福建省产前诊断与出生缺陷重点实验室开放课题。

摘　　要：目的评价HbA2和HbF联合检测对于筛查福建泉州地区育龄人群地中海贫血(简称地贫)的应用价值,并寻找本地区的最佳截断值。方法11428例疑似地贫患者同时行毛细管血红蛋白电泳和α、β地贫基因诊断,应用统计学方法分析各型地贫的分布情况及HbA2和HbF筛查各型地贫的性能比较,根据绘制ROC曲线得出HbA2和HbF的最佳截断值。结果4591例地贫患者按携带基因类型包括α、β、αβ复合型地贫。α和β地贫最常见的基因类型分别为--SEA/αα和β^(654)/β^(N)、β^(41-42)/β^(N)、β^(17)/β^(N)。绘制ROC曲线检测HbA2筛查α地贫、β地贫、αβ复合地贫、静止型α地贫、轻型α地贫、中间型α地贫的性能,得到最大曲线下面积分别为0.674、0.984、0.936、0.499、0.731、0.956,Hb A2的最佳截断值分别为2.45%、3.25%、3.65%、2.95%、2.55%、1.75%。结论HbA2是筛查中间型α地贫、β地贫、αβ复合型地贫效率较高的指标,联合检测HbA2和HbF可有效地检出β地贫基因携带者。Objective To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou,Fujian,and determine the optimal cut-off values for the region.Methods Capillary hemoglobin electrophoresis and genetic testing forαandβglobin gene mutations were simultaneously carried out on 11428 patients with suspected thalassemia.Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia.The optimal cut-off values for HbA2 and HbF were determined with the ROC curves.Results 4591 patients withα,β,andαβcompound thalassemia were identified by genetic testing.The most common genotypes forαandβthalassemia included--SEA/ααandβ654/βN,β41-42/βN,andβ17/βN.The ROC curves were drawn to compare the performance of HbA2 screening forα-,β-,αβ-compound,staticα-,mildα-,and intermediateα-thalassemia,and the maximum area under the curves was 0.674,0.984,0.936,0.499,0.731,0.956,and the optimal cut-off values for HbA2 were 2.45%,3.25%,3.65%,2.95%,2.55%,1.75%,respectively.Conclusion HbA2 is an efficient indicator for identifying intermediate types ofα-,β-,andαβcompound thalassemia.The combination of HbA2 and HbF measurement can effectively detect carriers forβ-thalassemia mutations.

关 键 词：地中海贫血 毛细管电泳 基因诊断 ROC曲线 

分 类 号：R556.61[医药卫生—血液循环系统疾病]