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

Diagnostic value of MCV,MCH,RBC count and hemoglobin electrophoresis in screening of thalassaemia

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 explore the diagnostic value of mean corpuscular volume （MCV）, mean corpuscular hemoglobin （MCH）, red blood cell （RBC） count and hemoglobin electrophoresis in screening of thalassaemia, and search for appropriate detection method of screening of mild thalassaemia. Methods： From April 2007 to December 2009, 84 cases with positive results of thalassaemia screening received confirmed diagnosis test of thalassaemia gene. The five categories of blood and hemoglobin detection were analyzed, then the sensitivity, specificity, accuracy, positive predictive value and negative predictive value of common five screening methods （ typical blood picture of thalassaemia RBC ↑ , MCV ↓. and MCH ↓ ; MCV ↓or MCH ↓; abnormal RBC and MCV ↓. or MCH ↓. ; simple abnormal hemoglobin electrophoresis; abnormal hemoglobin eleetrophoresis and five categories of blood cell） were compared. Results： The specificity and accuracy of typical thalassaemia manifestations among five categories of blood in screening of thalassaemia were 100% and 79% , respectively. The sensitivities of RBC count, MCV and MCH in screening of thalassaemia were high, the rate of missed diagnosis of hemoglobin electrophoresis combined with five categories of blood cell was low. Conclusion： There is no ideal screening method of thalassaemia, different screening methods should be selected according to conditions of patients.