4种地中海贫血筛查模式的应用效果比较

Comparison of application of 4 screening models for thalassemia

目的对4种常见地中海贫血(简称地贫)筛查模式的应用效果进行评价。方法选取670对携带地贫基因夫妻和568对非携带地贫基因夫妻作为研究对象。以地贫基因检测结果为金标准,对所有研究对象血常规检查和血红蛋白(Hb)电泳检测结果进行分析。结果模式一、模式二、模式三、模式四的阳性预测值分别为7.39%、7.25%、7.86%、6.76%;阴性预测值分别为94.66%、98.52%、93.90%、96.84%;特异性分别为53.53%、17.24%、88.88%、13.19%;敏感性分别为55.13%、96.15%、14.10%、93.59%;漏诊率分别为44.87%、3.85%、85.90%、6.41%。模式二阴性预测值最高、漏诊率最低。结论模式二为地贫最佳筛查模式,在条件允许的情况下,应选择模式二进行地贫筛查。

Objective To evaluate the effects of 4 common screening models for thalassemia.Methods A total of 670 couples carrying thalassaemia gene and 568 couples without thalassaemia gene were enrolled in this study.The genetic diagnosis results for thalassemia were used as golden standard.Routine blood analysis and hemoglobin(Hb)electrophoresis analysis were performed.Results The positive predictive values of Mode 1,Mode 2,Mode 3 and Mode 4 were 7.39%,7.25%,7.86%and 6.76%;its negative predictive values were 94.66%,98.52%,93.90%and 96.84%;the specificities were 53.53%,17.24%,88.88%and 13.19%;the sensitivities were 55.13%,96.15%,14.10%and 93.59%;and the missed diagnosis rates were 44.87%,3.85%,85.90%and 6.41%,respectively.Mode 2 had the highest negative predictive value and the lowest rate of missed diagnosis.Conclusion Mode 2 is the optimal screening mode for thalassemia.It should be selected for thalassemia screening as much as possible.