Sebia检测HbA_2值诊断β-珠蛋白生成障碍性贫血  

The study of HbA_2 tested by Sebia for the diagnosis of β-thalassemia

作　　者：陈海生[1] 张劲丰[1] 刘元力[1] 

机构地区：[1]广东省佛山市中医院检验科,广东佛山528000

出　　处：《分子诊断与治疗杂志》2009年第3期172-174,共3页Journal of Molecular Diagnostics and Therapy

摘　　要：目的探讨Sebia全自动血红蛋白琼脂糖凝胶电泳检测HbA2值在β-珠蛋白生成障碍性贫血诊断中的应用。方法采用全自动血红蛋白琼脂糖凝胶电泳仪进行血红蛋白(Hb)电泳,测定HbA2含量及采用聚合酶链反应(PCR)和寡核苷酸探针斑点杂交(ASO)方法进行基因突变类型分析,比较两种方法,观察HbA2含量在β-珠蛋白生成障碍性贫血诊断的价值。结果检测了85例临床标本HbA2增高者(含量>4.0%),再进行基因检测同时发现96.5%的HbA2增高者都是β-珠蛋白生成障碍性贫血患者,主要是CD41-42,IVS-2nt654,CD17,TATA-28,CD71-72,TATA29等基因表型。其余3.5%是HBC/E分子病,而它的HbA2的含量可达20%以上。结论Sebia全自动血红蛋白琼脂糖凝胶电泳检测HbA2含量增高在β-珠蛋白生成障碍性贫血诊断中是一种快速有效的方法。Objective To evaluate the application of HbA2 tested by automatic hemoglobin agarose electrophoresis in the diagnosis of β-thalassemia.Methods Automatic hemoglobin agarose electrophoresis was used to perform hemoglobin electrophoresis and to determine the content of HbA2.At the same time,analysing the types of gene mutation by using polymerase chain and ASO.Compared them,observed the value of the content of HbA2 in β-thalassemia.Results Detected 85 cases of clinical samples with high content of HbA2(the content was over 4.0%).At one time,these samples were tested by gene testing subsquantly.We found that 96.5% high content of HbA2 were patients of β-thalassemia.The types of gene were CD41-42,IVS-2nt654,CD17,TATA-28,CD71-72,TATA29 ect.The etceteras 3.5% were molecular disease,and its content of HbA2 was over 20%.Conclusion Sebia automatic hemoglobin agarose electrophoresis can provide fast and effective way for the diagnosis of β-thalassemia by testing the content of HbA2.

关 键 词：Β-珠蛋白生成障碍性贫血 HBA2 琼脂糖凝胶电泳 基因 

分 类 号：R556[医药卫生—血液循环系统疾病]