广东顺德地区β-地中海贫血流行病学调查

目的调查顺德地区婚检人群β-地中海贫血（β-地贫）基因的携带率、基因突变类型及其频率分布。方法血液学筛查β-地贫阳性指征者，应用PCR结合反向斑点杂交法（RDB）进行β-地贫基因分析。结果在1100例婚检对象中，初筛表型阳性样品43例，检出率3．91％。经基因分析，全部携带β-地贫基因，其中以CD41—42，IVS-Ⅱ-654、-28、CD17、βE为最常见的突变位点，上述5种突变类型占所有检出突变位点的95．3％。结论顺德地区β-地中海贫血基因携带率比广东其他地区稍高，在预防干预中应给予重视。

Epidemiological investigation of β-thalassemia in Shunde Area of Guangdong

Objective To investigate the carrying rate and frequency distribution of β - thaiassemia （ β - thal） gene in health checkup of premarrital population in Shunde area gene. Methods The β - thalassemia gene inβ- thalassemia positives were determined with PCR and reverse dot blot method （PCR - RDB）. Results In 1 100 example 43 were positive for β -thalassemia in the first creening and they were confirmed to be β -thalassemia gene carders by genetic analysis, the detection rate of β- thaiassemia gene was 3.91%. and the common mutation sites were CD41 -42, IVS - Ⅱ -654, -28, CD17, βE, accounting for 95.3% of the detected total in this area. Conclusion The β - thalassemia carrying rate in population of Shunde area is slightly higher than other areas in Guangdong and effective intervention is indicated.