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目的:探讨MCV、MCH、RBC计数和血红蛋白电泳在地中海贫血筛查中的诊断价值,为轻型地贫的筛查开展寻找合适的检验方法。方法:对2007年4月～2009年11月在婚检中地贫筛查试验阳性并进行了地贫基因确诊试验的84人,回顾性分析血液五分类检查和血红蛋白检查结果,分别对目前常用的5种筛查方法进行比较(①典型地贫血像RBC↑并且MCV↓及MCH↓;②MCV↓或MCH↓;③RBC异常联合MCV↓或MCH↓;④单纯血红蛋白电泳异常;⑤血红蛋白电泳异常联合血细胞五分类),分别比较各种筛查方法的检验敏感性、特异性、准确性,阳性和阴性预测值。结果:以血细胞五分类中典型地贫表现进行地贫筛查及特异性100%,检验准确性79%。以血红蛋白电泳联合血细胞五分类中MCV、MCH、RBC计数进行地贫筛查,敏感利用血细胞五分类中RBC计数、MCV、MCH异常进行地贫筛查敏感度高,联合使用血红蛋白电泳和血细胞五分类方法筛查轻型患者漏诊率低。结论:目前没有理想的地贫筛查方法,应根据病人不同的情况选择不同的地贫筛查方法。
Objective: To investigate the diagnostic value of MCV, MCH, RBC count and hemoglobin electrophoresis in thalassemia screening and to find a suitable test method for the screening of thalassemia. Methods: From April 2007 to November 2009, 84 children with positive thalassemia screening test and thalassemia gene diagnosis test in premarital examination were retrospectively analyzed. The results of five-category blood test and hemoglobin test were analyzed retrospectively. 5 screening methods were compared (① typical anemia like RBC ↑ and MCV ↓ and MCH ↓; ②MCV ↓ or MCH ↓; ③ RBC abnormal MCV ↓ or MCH ↓ ④ abnormal hemoglobin electrophoresis; ⑤ abnormal hemoglobin electrophoresis combined with blood cells five Categories) were used to compare the test sensitivity, specificity, accuracy, positive and negative predictive value of various screening methods. Results: Thalassemia screening and specificity of 100% were typical for poor performance in the five categories of blood cells, with an accuracy of 79%. The detection of thalassemia by MCV, MCH and RBC count in hemoglobin electrophoresis combined with five categories of blood cells is sensitive to the use of RBC count, MCV and MCH abnormalities in screening of thalassemia in the five categories of blood cells, combined with hemoglobin electrophoresis and five-class Method screening for light patients with low rate of missed diagnosis. Conclusion: At present, there is no ideal thalassemia screening method, and different thalassemia screening methods should be selected according to different patients.