首页|红细胞参数和血红蛋白A2在α-地中海贫血筛查中的价值

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

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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 as α-thalassemia).Methods From January 2019 to December 2020 in our hospital,223 pa-tients diagnosed with α-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 op-erating curve(ROC)was used to evaluate the screening performance of various indicators for α-thalassemia.Results Among the 223 patients with α-thalassemia,minor α-thalassemia was the most common,with the-SEA/αα genotype as the main type.The values of MCV,MCH,MCHC and HbA2 in α-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 of α-thalassemia,the area under ROC curve was 0.94,0.96,0.90 and 0.79,re-spectively,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 of α-thalasse-mia was different.The area under ROC curve of static α-thalassemia,minor α-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 for α-thalassemia in our laboratory.Conclusion The sensitivity and specificity of MCV,MCH and MCHC were excellent for screening α-thalassemia.HbA2 can be used as independent screening index for HbH disease in Guilin,but for static α-thalassemia and minor α-thalassemia,it may cause missed detections.If necessary,gene diagnosis can be performed directly to improve the accuracy of the diagnosis of α-thalassemia and reduce missed screening.

α-thalassemiaerythrocyte parametershemoglobin A2receiver operating curve

谢思燕、莫丽军、蒋惟、韦传东

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桂林医学院第二附属医院检验科,广西桂林 541199

α地中海贫血 红细胞参数 血红蛋白A2 受试者工作曲线

国家自然科学基金

81860078

2024

中国实验诊断学
吉林大学中日联谊医院 上海交通大学医学院附属瑞金医院

中国实验诊断学

CSTPCD
影响因子:1.273
ISSN:1007-4287
年,卷(期):2024.(9)