摘要
目的:对新生儿脐血进行血红蛋白电泳分析,探讨血红蛋白电泳在地中海贫血筛查中的临床应用价值。方法:收集2012年1月至2013年12月广东省21个地市妇幼保健院送检新生儿脐带血标本14 032例。采用全自动毛细管电泳分析系统进行血红蛋白电泳检测。血红蛋白电泳筛查结果阳性的标本进一步进行基因检测。结果:血红蛋白电泳共检出异常例数为1 445(11.07%),其中检出疑似α-地中海贫血1075例(7.66%),疑似β-地中海贫血478例(3.41%),疑似异常血红蛋白127例(0.91%)。α-地中海贫血基因诊断确诊为967例,与血红蛋白电泳筛查符合率为89.95%;β-地中海贫血基因诊断确诊为404例,与血红蛋白电泳筛查符合率为82.96%。通过PCR结合反向斑点杂交法或DNA测序后,疑似异常血红蛋白标本中确诊124例,其中Hb E 38例、Hb Q 28例、Hb D 21例、Hb New York 19例、Hb J 13例、Hb G 5例。结论:脐血血红蛋白电泳是新生儿地中海贫血及异常血红蛋白病有效的筛查方法。
Objective To study the diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia. Methods Between January 2012 and December 2013, 14032 core blood samples which were from different 21 Women and Children Hospitals in Guangdong were performed for the neonatal screening with hemoglobin electrophoresis. The positive samples of hemoglobin electrophoresis were recalled for genetic testing. Results Out of 1445 （11.07%） positive samples of hemoglobin electrophoresis, 1075 （54.08%） cases were suspected for α-thalassemia, 478 （3.41%） cases were suspected for β-thalassemia, 127 （0.91%） cases were suspected for abnormal hemoglobin. With the genetic testing, 967 cases were diagnosed as α-thalassemia, 404 cases were diagnosed as β-thalassemia. The coincidence rate of α-thalassemia and β-thalassemia were 89.95% and 82.96%, respectively. Besides, 124 cases were diagnosed as abnormal hemoglobin, including 38 cases of Hb E, 28 cases of Hb Q, 21 cases of Hb D, 19 cases of Hb New York, 13 cases of Hb J, and 5 cases of Hb J. Conclusion Hemoglobin electrophoresis was definitely helpful in the neonatal cord blood screening for thalassemia and abnormal hemoglobin.
出处
《实用医学杂志》
CAS
北大核心
2014年第12期1953-1955,共3页
The Journal of Practical Medicine
关键词
地中海贫血
血红蛋白电泳
新生儿筛查
脐血
Thalassemia
Hemoglobin electrophoresis
Neonatal screening
Cord blood
