脐血蛋白电泳在α-地中海贫血基因诊断的价值

Significance of haemoglobin electrophoresis of neonatal cord blood in diagnosing α-thalassemia

目的研究脐血血红蛋白电泳对α-地中海贫血诊断的价值，了解贵港地区新生儿α-地中海贫血基因携带率及基因类型。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Hb Bart’s带的标本进行α-地中海贫血基因诊断。结果5000例脐血标本共检出Hb Bart＇s带的标本有610例，携带率为12．2％；588例行α-地中海贫血基因检测，静止型α-地中海贫血100例（17．0％），包括非缺失型基因型51例（8．7％）；标准型412例（70．I％），其中-SEA／αα385例（65．5％）；检出血红蛋白H病38例（6．4％）；Hb Bart’s胎儿水肿综合征13例（2．2％）；仪一地中海贫血基因检测未见异常25例（4．3％）。结论脐血血红蛋白电泳对新生儿α-地中海贫血的筛查和诊断是一种简便、有效的方法。

Objective To investigate the value of haemoglobin electrophoresis with neonatal cord blood in diagnosing α-thalassemia and to explore the gene carrier rate and type in Guigang City. Methods Haemoglobin agarose electrophoresis was performed with neonatal cord blood samples and the zones were scanned by phoresis optical density scanner for quantitative analysis. Samples detected with Hb Bart＇ s were studied for genetic diagnosis of α-thalassemia. Results Among 5 000 samples 610 were detected with Hb Bart＇ s, and the carrier rate was 12.2%. 588 samples were performed α-thalassemia gene detection. There were 100 cases of static α-thalassemia （ 17.0% ）, including 51 cases with nondeletion type of genes （8.7%）. There were 412 cases with SEA, of whom 385 cases （65.5%） with -SEA/ act. Hemoglobin H was detected in 38 cases （6.4%） and Hb Bart＇ s hydrops fetalis syndrome in 13 cases （2.2%）. 25 cases （4.3%） were not detected with abnormality in α-thalassemia gene detection. Conclusion Haemoglobin agarose electrophoresis with neonatal cord blood is a convenient and effective way for the screening and diagnosis of α-thalassemia.