ROC曲线评价G6PD活性对地中海贫血的初筛价值探讨  

Investigation on the diagnosis significance of G6PD activity in screening of thalassemia by ROC curve evaluation

作　　者：袁明生[1] 易旺云[2] 叶国娟 

机构地区：[1]中山市陈星海医院检验科,广东中山528415 [2]中山市陈星海医院妇产科,广东中山528415

出　　处：《检验医学》2013年第6期462-465,共4页Laboratory Medicine

摘　　要：目的评价葡萄糖-6-磷酸脱氢酶(G6PD)活性测定在地中海贫血初筛中的应用价值。方法采用聚合酶链反应(PCR)和反向点杂交技术作为金标准对229例孕妇的血标本进行基因检测,根据基因检测结果将其分为地中海贫血组(163例)和对照组(66例)。同时检测2组G6PD活性,并与PCR检测结果进行比较,分析其敏感性、特异性、阳性预测值(PPV)、阴性预测值(NPV)、阳性似然比(+LR)和阴性似然比(-LR),应用受试者工作特性(ROC)曲线评估G6PD活性对地中海贫血的初筛价值。结果地中海贫血组G6PD活性为(13.16±3.23)U/gHb,明显高于对照组[(10.63±2.18)U/gHb](t=5.83,P=0.000);G6PD的ROC曲线下面积为0.757,最佳诊断界点为11.95 U/gHb,其敏感性为0.693、特异性为0.773、PPV为0.88,NPV为0.50、+LR为3.05、-LR为2.52。结论 G6PD活性检测对地中海贫血具有一定的初筛价值。G6PD活性升高者应高度怀疑为地中海贫血,需进一步进行基因检测以确诊。Objective To evaluate the application significance of glucose-6-phosphate dehydrogenase （G6PD） activity detection in screening of thalassemia. Methods A total of 229 blood samples of pregnant women were detected by polymerase chain reaction （PCR） and reverse dot-blotting as golden standard. They were classified into 2 groups according to genetic testing results： thalassemia group （163 cases） and control group （66 cases）. The G6PD activities were detected, and the results were compared with those of PCR. The sensitivity, specificity, positive predictive value （PPV）, negative predictive value（ NPV）, positive likelihood ratio （ ＋ LR） and negative likelihood ratio （-LR） were analyzed. The results of G6PD activity detection in screening of thalassemia were analyzed and evaluated by receiver operating characteristic （ROC） curve. Results G6PD activity in thalassemia group was （ 13.16±3.23 ） U/glib, which was higher than that in control group[ （10.63 ±2.18 ）U/glib] （t = 5.83, P = 0.000）. The area under the ROC curve was 0. 757. The optimal cut-off value was 11.95U/glib. The sensitivity, specificity, PPV, NPV, ＋ LR and - LR were 0.693,0.773,0.88, 0.50,3.05 and 2.52, respectively. Conclusions G6PD activity detection has some screening significance in the diagnosis of thalassemia. The increasing of G6PD activity should be highly suspected as thalassemia to further confirm by gene detection.

关 键 词：葡萄糖-6-磷酸脱氢酶 地中海贫血 受试者工作特性曲线 初筛 

分 类 号：Q554[生物学—生物化学]