红细胞参数和血红蛋白A2在α-地中海贫血筛查中的价值  

Value of erythrocyte parameters and HbA2 in screening for alpha-thalassemia

作　　者：谢思燕 莫丽军 蒋惟 韦传东 XIE Siyan;MO Lijun;JIANG Wei;WEI Chuandong(Department of Laboratorial Medicine,The Second Affiliated Hospital of Guilin Medical University,Guilin,Guangxi 541199,China)

机构地区：[1]桂林医学院第二附属医院检验科,广西桂林541199

出　　处：《中国实验诊断学》2024年第9期1013-1017,共5页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金(81860078)。

摘　　要：目的探讨平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)、平均红细胞血红蛋白浓度(MCHC)和血红蛋白A2(HbA2)在α-地中海贫血(简称α-地贫)筛查中的价值。方法选取2019年1月至2020年12月在桂林医学院第二附属医院进行地中海贫血基因检测,确诊为α-地贫患者223例,以及地中海贫血基因诊断阴性的健康对照者689例为研究对象,分析其血常规检查和血红蛋白电泳检测结果,并运用受试者工作曲线(ROC曲线)评估各指标对α-地中海贫血的筛查性能。结果223例α-地贫患者中,标准型α-地贫最常见,以-SEA/αα基因型为主。各型α-地贫患者的MCV、MCH、MCHC、HbA2值均低于非地贫对照组,差异均具有统计学意义(P<0.01)。MCV、MCH、MCHC、HbA2单独作为α-地贫筛查指标时,ROC曲线下面积分别为0.94、0.96、0.90,0.79灵敏度分别为87.44%、92.83%、83.41%、70.40%,特异度分别为89.55%、90.13%、81.42%、75.76%;HbA2对不同类型α-地贫的筛查效能不同,其中静止型、标准型、中间型α-地贫的ROC曲线下面积分别为0.68、0.87、1.00;结合临床需求,建议本实验室使用MCV<84.45 fL、MCH<28.45 pg、MCHC<330.30 g/L和HbA2<2.85%作为α-地中海贫血的筛查标准。结论MCV、MCH和MCHC对于筛查α-地贫具有较高的灵敏度和特异性,HbA2可作为独立筛查指标用于桂林地区中间型α-地贫的筛查,但对于静止型及标准型α-地贫的筛查可能会造成漏检,必要时可直接进行基因诊断以提高诊断α-地贫的准确度,减少漏检。Objective To explore the value of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)and hemoglobin A2(HbA2)in screening for alpha-thalassemia(abbreviated asα-thalassemia).Methods From January 2019 to December 2020 in our hospital,223 patients diagnosed withα-thalassemia and 689 controls with negative gene diagnosis of thalassemia were selected as the research subjects.The results of blood routine examination and hemoglobin electrophoresis were analyzed.Receiver operating curve(ROC)was used to evaluate the screening performance of various indicators forα-thalassemia.Results Among the 223 patients withα-thalassemia,minorα-thalassemia was the most common,with the-SEA/ααgenotype as the main type.The values of MCV,MCH,MCHC and HbA2 inα-thalassemia patients were all lower than those in non-thalassemia control group,and the differences were statistically significant(P<0.01).When MCV,MCH,MCHC and HbA2 were used as screening indexes ofα-thalassemia,the area under ROC curve was 0.94,0.96,0.90 and 0.79,respectively,and the sensitivity of was 87.44%,92.83%,83.41%and 70.40%,respectively.The specificity was 89.55%,90.13%,81.42%,75.76%,respectively.The screening efficiency of HbA2 for different types ofα-thalassemia was different.The area under ROC curve of staticα-thalassemia,minorα-thalassemia and HbH disease was 0.68,0.87 and 1.00 respectively.Combined with clinical needs,it is recommended that MCV<84.45 fL,MCH<28.45 pg,MCHC<330.30 g/L and HbA2<2.85%as the screening criteria forα-thalassemia in our laboratory.Conclusion The sensitivity and specificity of MCV,MCH and MCHC were excellent for screeningα-thalassemia.HbA2 can be used as independent screening index for HbH disease in Guilin,but for staticα-thalassemia and minorα-thalassemia,it may cause missed detections.If necessary,gene diagnosis can be performed directly to improve the accuracy of the diagnosis ofα-thalassemia and reduce missed screening.

关 键 词：Α地中海贫血 红细胞参数 血红蛋白A2 受试者工作曲线 

分 类 号：R556.7[医药卫生—血液循环系统疾病]