泉州地区育龄人群地中海贫血筛查的应用分析  

Application Analysis of Screening for Thalassemia in the Population of Childbearing Age in Quanzhou

作　　者：颜梅珍 刘小龙 王元白 江矞颖 庄建龙 王耿 庄倩梅 YAN Mei-Zhen;LIU Xiao-Long;WANG Yuan-Bai;JIANG Yu-Ying;ZHUANG Jian-Long;WANG Geng;ZHUANG Qian-Mei(Prenatal Diagnosis Center,Quanzhou Women′sand Children′sHospital,Quanzhou 362000,Fujian Province,China;Department of Pediatrics,Quanzhou Women′sand Children′sHospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]泉州市妇幼保健院·儿童医院产前诊断中心,福建泉州362000 [2]泉州市妇幼保健院·儿童医院儿科,福建泉州362000

出　　处：《中国实验血液学杂志》2024年第6期1841-1847,共7页Journal of Experimental Hematology

基　　金：泉州市科技计划项目(2022N037S)。

摘　　要：目的:分析MCV、MCH、HbA2在泉州地区育龄人群地中海贫血筛查中的应用价值,并确定本地区最佳筛查截断值。方法:对2725对育龄夫妻进行血常规检测、毛细管血红蛋白电泳和α、β地贫基因检测,运用统计学方法分析地贫各种基因型的分布情况,并比较MCV、MCH、HbA2在各型地贫筛查中的性能,根据ROC曲线得出MCV、MCH、HbA2在本地区地贫筛查中的最佳截断值。结果:本研究共检测出1801例地贫携带者,包括α地贫1341例、β地贫420例、αβ复合型地贫40例。α和β地贫最常见的基因类型分别为--SEA/αα和β654/βN。绘制ROC曲线评估MCV、MCH和HbA2筛查α地贫、轻型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0.747、0.865、0.724、0.486、0.812、0.841;0.747、0.846、0.703、0.479、0.796、0.903;0.613、0.980、0.909、0.465、0.674、0.996;3种筛查指标对应的最佳截断值分别为76.15 fl、71.95 fl、77.35 fl、86.15 fl、75.41 fl、61.15 fl;24.35 pg、21.51 pg、25.45 pg、28.65 pg、24.01 pg、20.51 pg;2.45%、3.05%、3.55%、3.25%、2.45%、1.65%。结论:MCV、MCH和HbA2水平与地贫基因表型有一定的相关性,检测相关指标对于地贫防控具有重要意义。Objective:To analyze the application value of MCV,MCH and HbA2 in screening for thalassemia in the population of childbearing age in Quanzhou area,and to determine the optimal screening cut-off value of relevant indicators in this area.Methods:2725 couples of childbearing age were included in the study and underwent routine blood test,capillary hemoglobin electrophoresis,andαandβthalassemia gene test.Statistical methods were used to analyze the distribution of thalassemia genotypes,and compare the performance of MCV,MCH,and HbA2 in screening various types of thalassemia.According to the ROC curve,the best cut-off values of MCV,MCH and HbA2 in screening for thalassemia in this area were determined.Results:In this study,a total of 1801 thalassemia carriers were detected,including 1341 cases ofα-thalassemia,420 cases ofβ-thalassemia,and 40 cases ofαβcompound thalassemia.The most common genotypes ofα-thalassemia andβ-thalassemia were--SEA/ααandβ654/βN,respectively.ROC curves were drawn to evaluate the performance of MCV,MCH and HbA2 in screening forα-thalassemia,mildβ-thalassemia,αβcompound thalassemia,silentα-thalassemia,mildα-thalassemia,and intermediateα-thalassemia.The maximum areas under the curves(AUC)were 0.747,0.865,0.724,0.486,0.812,0.841;0.747,0.846,0.703,0.479,0.796,0.903;0.613,0.980,0.909,0.465,0.674,0.996,respectively;and the best cut-off values corresponding to the three screening indicators were 76.15fl,71.95fl,77.35fl,86.15fl,75.41fl,61.15fl;24.35pg,21.51pg,25.45pg,28.65pg,24.01pg,20.51pg;2.45%,3.05%,3.55%,3.25%,2.45%,1.65%,respectively.Conclusion:The levels of MCV,MCH and HbA2are correlated with the phenotype of thalassemia,and the detection of these indicators is of great significance for the prevention and control of thalassaemia.

关 键 词：地中海贫血 MCV MCH HBA2 ROC曲线 

分 类 号：R556.61[医药卫生—血液循环系统疾病]