【摘要】 目的探讨毛细管电泳法检测血红蛋白和血液学指标在地中海贫血筛查中的诊断价值。方法收集中山大学附属第一医院东院在2016年1月至2017年7月期间进行地中海贫血筛查的患者6416例,其中血红蛋白电泳、血液学指标和基因检测数据齐全的病例152例,分析联合毛细管电泳法和血液学指标筛查地贫的效能。结果 152例同时进行了毛细管电泳、血细胞分析、基因检测的病例中,疑似地贫患者的符合率为55.4%,异常血红蛋白者的符合率为80%,单纯MCV、MCH或电泳异常者的符合率为14.5%,筛查正常者的符合率达90.9%;筛查总符合率为37.6%。其中MCV、MCH具有较高的灵敏度和特异性,RBC有较高的灵敏度,但特异性低;电泳结果具有较高的灵敏度,对β-地贫患者的检出具有很高的诊断价值,并可以检测出异常血红蛋白带;毛细管电泳联合MCV、MCH筛查地中海贫血具有较高的灵敏度和特异性。结论单纯血细胞分析或单纯电泳结果在地贫筛查中诊断价值一般,联合血细胞分析和毛细管电泳结果在地贫筛查中诊断价值高。更多还原

【Abstract】 Objective To evaluate the diagnostic value of capillary electrophoresis for the detection of hemoglobin and hematology in the screening of thalassemia.Methods 152 cases of patients with complete records of hemoglobin electrophoresis,hematology detection index and genetic data were selected from 6,416 cases for thalassemia patients who underwent screening in our hospital from January,2016 to July,2017.The analytical diagnostic performances of three screening methods were compared.Results Among 152 cases,55.4% of suspected thalassemia were verified,80% of suspected abnormal hemoglobinopathy were confirmed and only 14.5% of abnormal MCV and MCH or electrophoresis alone were proved to be thalassemia by gene analysis.90.9% normal screening patients were proved to be normal.The total coincidence rate of screening was 37.6%,in which MCV and MCH had relative high sensitivities and specificities,while RBC had a relative high sensitivity and low specificity.The electrophoresis result had a high sensitivity for diagnosis,especially in the detection of beta thalassemia and abnormal hemoglobinopathy.Combined applications of capillary electrophoresis with MCV and MCH in screening thalassemia achieved a high sensitivity and specificity.Conclusion Blood cell analysis or electrophoresis alone has a general poor diagnostic value in patient screening.Combined applications of blood analysis and capillary electrophoresis have an improved diagnostic performance.更多还原