MCV与 MCH 联合血红蛋白电泳筛查常见地中海贫血

摘要

Objective To compare the sensitivities and specificities of the combined determinations of mean corpuscular volume ( MCV) and mean corpuscular hemoglobin ( MCH) with HbA2 or only HbA2 determination for screening common thalassemia .Methods A total of 275 β-thalassemia gene carriers , 44 αβ-compound-thalassemia gene carriers, 186 α-thalassemia gene carriers and 398 non-thalassemia gene carriers were enrolled .MCV and MCH were determined by XE-2100, and hemoglobin electrophoresis was performed by CAPILLARYS 2 system.GAP-PCR and PCR-reverse blot hybridization were used to detect 3 common α-thalassemia genes and 17 common β-thalassemia gene mutations, respectively.The sensitivities, specificities, positive predictive values (PPV) and negative predictive values ( NPV) were compared between hemoglobin electrophoresis and the combined determinations of MCV and MCH with hemoglobin electrophoresis in thalassemia diagnosis .Results For screening β-thalassemia gene carriers and αβ-compound-thalassemia gene carriers by hemoglobin electrophoresis , the sensitivity was 99.69%, the specificity was 98. 28%, the PPV was 96.96%, and the NPV was 99.83%.For screening α-thalassemia gene carriers by the combined determination of MCV with hemoglobin electrophoresis , the sensitivity was 86.56%, the specificity was 83.26%, the PPV was 57.30%, and the NPV was 95.98%. For screening α-thalassemia gene carriers by the combined determination of MCH with hemoglobin electrophoresis , the sensitivity was 92.47%, the specificity was 81.45%, the PPV was 56.39%, and the NPV was 97.66%.Conclusions Hemoglobin electrophoresis can determine above 95%β-thalassemia and αβ-compound-thalassemia gene carriers . The combined determination of MCH with hemoglobin electrophoresis can improve sensitivity in thalassemia screening .%目的：比较HbA2或HbA2联合平均红细胞体积（ MCV）、平均红细胞血红蛋白含量（ MCH）筛查常见地中海贫血的敏感性、特异性的差异。方法选择275例β-地中海贫血、44例α-复合β-地中海贫血、186例α-地中海贫血和398例非地中海贫血，分别采用XE-2100血液分析仪检测MCV和MCH、CAPILLARYS 2全自动电泳仪做血红蛋白电泳、跨越断裂点聚合酶链反应（ GAP-PCR）检测3种常见缺失、聚合酶链反应（ PCR）结合反向斑点杂交法检测17个常见突变位点。比较血红蛋白电泳单独和联合MCV、MCH筛查常见地中海贫血的敏感性、特异性、阳性预测值（ PPV）、阴性预测值（ NPV）。结果血红蛋白电泳筛查β-地中海贫血和α-复合β-地中海贫血的敏感性为99．69％，特异性为98．28％，阳性预测值（ PPV）为96．96％，阴性预测值（ NPV）为99．83％。MCV联合血红蛋白电泳筛查α-地中海贫血的敏感性为86．56％，特异性为83．26％，PPV为57．30％，NPV为95．98％。 MCH联合血红蛋白电泳筛查α-地中海贫血的敏感性为92．47％，特异性为81．45％， PPV为56．39％， NPV为97．66％。结论血红蛋白电泳可以筛查出95％以上的β-地中海贫血和α-复合β-地中海贫血，MCH联合血红蛋白电泳筛查α-地中海贫血可以提高筛查的敏感性。