中文摘要：

目的调查广东韶关地区异常血红蛋白（hemoglobin，Hb）的分子流行病学特点。方法对2011年11月至2012年5月来我院就诊的9731例调查对象进行血细胞分析和Hb电泳筛查，对电泳异常标本进行基因测序。结果共发现45例异常Hb患者，发生率为0．46％，其中E区带7例，G／D区带9例，J区带7例，K区带6例，Q区带16例。基因测序结果显示，仅珠蛋白基因变异25例，基因频率为1．285×10^-3，β珠蛋白基因变异20例，基因频率为1．028×10^-3；发现9种异常Hb类型，包括Hb Q—Thailand 16例，HbE7例，Hb G—Chinese 6例，Hb New York 6例，Hb G—Coushatta 3例，Hb J-Bangkok 3例，Hb J—Broussais 2例，Hb Ottawa 1例，Hb G—Taipei 1例。结论韶关地区的异常Hb的发生率高于全国平均水平，异常Hb的基因类型及分布体现出客家人群特有的南方人群和北方人群交汇融合的特点。

英文摘要：

Objective To investigate the molecular epidemiological characteristics of abnormal hemoglobin （Hb） in Shaoguan, Guangdong Province. Methods A total of 9731 cases local people from November 2011 to May 2012 were subjected to blood cell analysis and Hb eleetrophoresis screening. Electrophoresis abnormal specimens were further gene sequencing. Results 45 cases of abnormal Hb were found. The incidence was 0.46% ,including 7 case E zone, 9 cases G/D zone, 7 cases J zone ,6 cases K zone, 16 cases Q zone. Gene sequencing results showed that there were 25 cases α likeglobin mutation and 20 cases β likeglobin mutation, and the gene frequency were 1.285 × 10^-3 and 1.028 × 10^-3, respectively. 9 kinds of abnormal Hb were found including 16 cases of Hb Q-Thailand, 7 cases of HbE, 6 cases of Hb G-Chinese, 6 cases of Hb New York, 3 cases of Hb G-Coushatta, 3 cases of Hb J-Bangkok, 2 cases of Hb J-Broussais, 1 case of Hb Ottawa, 1 case of Hb G-Taipei. Conclusion The incidence of abnormal Hb in Shaoguan is higher than the average of China. The gene type and distribution show a particular Hakka genetic characteristic of gene flow confluence of the south and north of China.