标题：ROC曲线评估血红蛋白A2筛查东莞地区α-地中海贫血的性能

      作者：陈丽莉，黎丽芬，朱学海，周静    中山大学附属东华医院中心实验室，广东 东莞 523000

      卷次： 2020年31卷11期

      【摘要】 目的 用ROC曲线评估血红蛋白A2 (HbA2)筛查东莞地区α-地中海贫血的性能。方法 采集2018年1月至2019年12月在中山大学附属东华医院就诊的2 119例成年患者的外周血，采用全自动毛细管电泳法检测HbA2含量，采用GAP-PCR法和PCR-RDB法检测地中海贫血基因。分析东莞地区α-地中海贫血的基因构成，比较各种类型α-地中海贫血的HbA2含量，同时通过受试者工作曲线(ROC曲线)评估HbA2对各种类型α-地中海贫血的筛查性能，以及确定本实验室HbA2的最佳截断值。结果 静止型、标准型、中间型α-地中海贫血患者和地贫基因阴性者的HbA2含量分别为(2.54±0.26)%、(2.33±0.20)%、(1.1±0.51)%和(2.66±0.33)%，四组患者的HbA2含量比较差异均具有显著统计学意义(P<0.01)；HbA2筛查静止型、标准型和中间型α-地中海贫血的最佳截断值分别为2.85%、2.55%、2.35%，ROC曲线下面积分别为0.626、0.834、0.989，灵敏度分别为91.4%、89.7%、100.0%，特异性分别为27.6%、65.6%、88.0%；结合临床需求，确定本实验室筛查静止型、标准型α-地中海贫血的HbA2截断值为2.7%，筛查中间型α-地中海贫血的HbA2截断值为2.35%。结论 HbA2对东莞地区中间型α-地中海贫血的筛查性能最高，此时HbA2能作为独立筛查指标，但对于静止型及标准型α-地中海贫血，单独使用HbA2进行筛查的性能不如前者，建议联合其他指标进行共同筛查。
      【关键词】 东莞地区；血红蛋白A2；α-地中海贫血；受试者工作曲线；截断值；性能
      【中图分类号】 R556 【文献标识码】 A 【文章编号】 1003—6350（2020）11—1390—04

Performance evaluation of hemoglobin A2 screening for α-thalassemia in Dongguan region by ROC curve.
CHENLi-li, LI Li-fen, ZHU Xue-hai, ZHOU Jing. Central Laboratory, Donghua Hospital Affiliated to Sun Yat-sen University,Dongguan 523000, Guangdong, CHINA
【Abstract】 Objective To evaluate the performance of screening α-thalassemia using hemoglobin A2 (HbA2)in Dongguan region by ROC curve. Methods From January 2018 to December 2019, the peripheral blood of 2 119 pa-tients were collected in Donghua Hospital Affiliated to Sun Yat-sen University. The content of HbA2 was analyzed byfull automatic capillary electrophoresis, and the genes of thalassemia were analyzed by GAP-PCR and PCR-based re-verse blot hybridization (PCR-RDB). The gene composition of α-thalassemia in Dongguan area was analyzed, and theHbA2 content of various types of α-thalassemia was compared. At the same time, the ROC curve was used to evaluatethe screening performance of HbA2 for all types of thalassemia. Results The HbA2 contents were respectively (2.54±0.26)%, (2.33±0.20)%, (1.1±0.51)% and (2.66±0.33)% in patients with stationary type, standard type, intermediate typeα-thalassemia and negative thalassemia. The difference of HbA2 among the four groups was highly statistically signifi-cant (P<0.01). The optimal cut-off values for HbA2 screening stationary type, standard type and intermediate typeα-thalassemia were respectively 2.85%, 2.55% and 2.35%; the area under the ROC curve were 0.626, 0.834, 0.989; the