血红蛋白电泳、MCV在地中海贫血筛查中的应用

Application of Hemoglobin Electrophoresis and Mean Corpuscular Volume in Screening of Thalassemia

目的:探讨分析血红蛋白电泳、MCV在地中海贫血筛查中的应用。方法:选取2017年1月-2018年9月在本妇幼保健院进行婚检、产检的疑似地中海贫血的319例患者为研究对象,所有患者均行血红蛋白(Hb)电泳、MCV检测、基因检测,其中以基因检测结果为地贫筛查诊断的金标准;对比分析Hb电泳、MCV检测、Hb电泳+MCV联合检测的结果、敏感度(Se)、特异度(Sp)、准确度(Ac)、阳性预测值(PPV)、阴性预测值(NPV)。结果:319例患者,经基因检测阳性180例,阴性139例;经MCV检测阳性243例,阴性76例;经Hb电泳检测阳性136例,阴性183例;MCV+Hb电泳联合检测,阳性177例,阴性142例。MCV检测、Hb电泳检测、MCV+Hb电泳联合检测三种地贫检测结果(Se、Sp、Ac、PPV、NPV)比较,差异均有统计学意义(P<0.05),且MCV+Hb电泳联合检测的Se、Sp、Ac、PPV、NPV均显著高于MCV检测和Hb电泳检测,差异均有统计学意义(P<0.05)。结论:MCV检测、Hb电泳检测对婚检、产检人群地中海贫血筛查均具有一定的临床指导意义,MCV+Hb电泳联合检测地贫较单一检测敏感度、特异度、准确度、阳性预测值、阴性预测值更高,检测效果更佳,对临床诊断治疗更具指导性意义。

Objective:To investigate and analyze the application of hemoglobin electrophoresis and mean corpuscular volume(MCV)in screening of thalassemia.Method:319 patients suspected to be thalassemia while accepting pre-marital medical check-up or antenatal care at this maternal and child care service centre from January 2017 to September 2018 were selected as this study objects,all patients underwent hemoglobin electrophoresis,mean corpuscular volume(MCV)and genetic testing separately,in which,the results of genetic testing was deemed as the gold standard for thalassemia screening;the testing results,the sensitivity(Se),specificity(Sp),accuracy(Ac),positive predictive value(PPV)and negative predictive value(NPV)for single MCV detection,Hb electrophoresis,MCV+Hb electrophoresis combined detection detection were compared.Result:Among 319 patients,180 patients was positive for thalassemia and 139 patients was negative upon genetic testing,243 positive and 76 negative patients upon MVC,136 positive and 183 negative upon hemoglobin electrophoresis,as well as 177 positive and 142 negative after combined detection.There were significant differences in the detection results(Se,Sp,Ac,PPV,NPV)of MCV,hemoglobin electrophoresis and combined detection(P<0.05),and the Se,Sp,Ac,PPV,NPV for MCV+Hb electrophoresis combined detection were higher than MCV and Hb electrophoresis,the differences were statistically significant(P<0.05).Conclusion:MCV and Hb electrophoresis plays a guidance role in screening of thalassemia for pre-marital medical check-up or antenatal care in clinical,the combined detect of MCV+Hb electrophoresis combined detection has higher sensitivity,specificity,accuracy,PPV and NPV compared to single detection,which has better detection effect and is instructive for diagnosis and treatment.