新生儿脐血血红蛋白电泳对α-珠蛋白生成障碍性贫血基因诊断的价值

目的研究脐血血红蛋白电泳在α-珠蛋白生成障碍性贫血及异常血红蛋白病中的诊断价值，了解东莞厚街地区新生儿α-珠蛋白生成障碍性贫血基因携带率、基因类型和异常血红蛋白种类。方法用脐血标本进行血红蛋白电泳，对电泳区带进行扫描定量分析，对检出HbBart’s带的标本进行α-珠蛋白生成障碍性贫血基因诊断。结果2369例脐血标本共检出HbBart’s带的标本有92例，携带率为3．88％；经基因诊断为α-珠蛋白生成障碍性贫血的有87例，其中--SEA／69例占79．3％，-α3.7／12例占13．8％，-α4.2／6例占6．9％；检出异常血红蛋白病11例占0．46％。2369例标本中母亲为α-珠蛋白生成障碍性贫血基因携带者，新生儿脐血检出HbBart’s带的有16例。结论脐血血红蛋白电泳对新生儿α-珠蛋白生成障碍性贫血及异常血红蛋白病的筛查和诊断是一种简便、有效的方法。

The haemoglobin electrophoresis of neonatal cord blood and the clinical diagnotic significance

Objective To investigate the carrier rate of α-thalassemia and explore the clinical significance. Methods 2369 cases neonatal cord blood samples were migrated by the automatic haemoglobin agarose electrophoresis instrument and the zones were scanned by phoresis optical density scanner for quantitation. Results 92 of 2369 samples were Hb Bart＇ s positive, the carrier rate were 3.88%. The type of genes were __SEA/, -α3.7/, and -α4.2/, and their percents were 79.3%, 13.8% and 6.9%. Additionally, 11 cases of abnormal hemoglobinopathy, the carder rate were 0.46%. Conclusion Haemoglobin agarose electrophoresis can provide fast and effective way for the diagnosis of α-thalassemia with neonatal cord blood screening.