摘要
目的建立一种在人群中筛查血红蛋白Constant Spring(Hb CS)的简单、经济的实验室方法。方法采用法国Sebia公司Capillarys 2全自动毛细管电泳仪及配套试剂进行血红蛋白电泳,检测Hb CS。阳性标本用分子检测技术验证。结果在23 842例临床标本中,共检出Hb CS携带者71(0.3%)例;Hb CS杂合子携带者血中Hb CS浓度为0.6%(0.1-1.0%)。结论本研究首次报道了本地区人群的Hb CS频率,表明毛细血管电泳仪可用于地中海贫血高发地区的人群筛查。
Objective: To develop a rapid, economical and efficient approach for screening for hemoglobin Constant Spring ( Hb CS). Methods: The Sebia capillarys 2 was used to analysis hemoglobin and detect the Hb CS variant. For the samples suspected of Hh CS, reverse dot -blot was used for confirming. Results: In a cohort of 23 842 individuals, Hb CS was detected in 71 (0. 3% ). The lev- els of Hb CS in heterozygotes ranged from 0. 1 - 1.0% with an average of 0. 6%. Conclusion: It was proposed the reported 0. 3% as a re- alistic figure for the prevalence of Hb CS in South China. The Sebia Capillarys 2 is a suitable device for the identification and Hb CS.
出处
《中国优生与遗传杂志》
2012年第11期30-30,129,F0002,共3页
Chinese Journal of Birth Health & Heredity