【摘要】 目的探讨并评估红细胞相关指标及其临界值用于筛查静止型α-地中海贫血(α-地贫)的临床价值。方法以77例单纯性静止型α-地贫患者和151例健康成人为研究对象,采用受试者工作特征曲线(ROC曲线)确定静止型α-地贫筛查指标及其临界值。结果 MCV、MCH、MCHC的ROC曲线下面积分别为0.857,0.858,0.740,均有筛查价值,其最佳临界值分别为82.0fl、28.0 pg和341.5 g/L;MCV≤82.0 fl或MCH≤28.0 pg平行模式筛查静止型α-地贫的灵敏度、特异度和漏诊率分别为93.5%、72.8%和6.49%。结论采用MCV≤82.0 fl或MCH≤28.0 pg平行模式可有效检出静止型α-地贫,为地贫高发区进行遗传咨询提供了一定的科学依据。更多还原

【Abstract】 Objective To investigate the cut-off values of RBC indexes in screening silent alpha-thalassemias carriers and to evaluate clinical application of the cut-off values.MethodsRBC indexes of 77 cases with silent α-thalassaemia and 151 healthy adults(as normal control group)were retrospected,β-thalassaemias and iron deficiency were excluded in the above mentioned individuals.The receiver operating characteristic(ROC)curve was used for identifying the useful RBC index and determining the cut-off values in the screening for silent α-thalassaemias.Results(1)The area under ROC curve of MCV、MCH、MCHC were 0.857、0.858 and 0.740,respectively.These indexes were of value to screen for silent α-thalassaemias carriers;(2)The cut-off values of MCV、MCH、MCHC were 82.0 fl and 28.0pg as well as 341.5 g/L;(3)The sensitivity and specificity of the parallel test of either MCV or MCH were 93.5% and 72.8%,respectively.Five silent α-thalassemia carriers failed to detect by the parallel test,resulting in a rate of 6.49%(5/77)for failure of detection,the risk of failure of detection was decreased 12 times when compared with recommended standard by TIF.They were much better than other tests.ConclusionThe parallel test of either MCV≤82.0 fl or MCH≤28.0 pg can screen silent α-thalassaemia carriers effectively.The results provide the scientific basis of clinical value for clinics performing genetic counseling in the high prevalent area of thalassaemia,especially in the areas where thalassaemias can not be genotyped.更多还原