异常血红蛋白81例基因分析

Genetic study of hemoglobin variants:report of 81 cases

目的研究我国两广地区异常血红蛋白(Hb)的基因突变热点。方法对广东、广西籍患者外周血样本进行血红蛋白碱性琼脂糖凝胶电泳,收集电泳异常标本进行基因检测。结果共收集到81例异常血红蛋白样本进行基因分析,发现以异常Hb E、Q-Tailand、New York突变频率最高,同时Hb G-Coushatta、Hb G-Chinese、Hb J-Bangkok也较常见。Hb G-Taipei、Hb D-Punjab、Hb Ottawa也有分布,另外Hb Haringey、Hb Ube-4及HbUbe-2为我国首例报道。结论我国两广地区异常血红蛋白以E、Q-Tailand、Hb New York为主,异常血红蛋白型别丰富。

Objective To investigate the mutation hotspots of the hemoglobin variants in population of Guangdong and Guangxi. Methods Peripheral blood samples of population from Guangdong and Guangxi were submitted for analysis by hemoglobin electrophoresis at alkaine pH on agarose gel. The samples identified, with Hb variants were recalled for ge- netic testing. Results A total of 81 samples with abnormal hemoglobin were collected for genetic testing. The most com- mon hemoglobin variants were HbE, Q - Tailand and New York. Meanwhile, Hb G - Coushatta, G - Chinese and J - Bangkok were also revealed common, lib G -Taipei, D -Punjab and Ottawa were also found. Furthermore, Hb Haringey, Ube- 4 and Ube- 2 were first discovered in China. Conclusion The most common hemoglobin variants in Guangdong and Guangxi are HbE, Q -Tailand and New York. Various hemoglobin varianta are found in this area.