深圳市盐田区地中海贫血分子流行病学调查

目的以盐田区户籍居民的样本为例调查深圳市地中海贫血基因突变的携带率、分布情况和基因突变类型。方法采用SysmexSE．9000全自动血液分析仪对盐田区35岁以下户籍居民（4652人）进行血细胞分析．同时通过Gap．PCR、DNA测序法对其进行地中海贫血基因突变检测。结果4652人中，地贫基因携带者共497人，总携带率为10．68％。其中α-地贫基因携带者377人（8．10％），β-地贫基因携带者108人（2．32％），α-地贫复合β-地贫12人（0．26％）。在α-地贫基因携带者中以东南亚型——SEA型居多（4．77％）。β-地贫基因携带者中以CD41．42所占人数最多（1．10％）。结论深圳盐田区户籍居民地贫基因携带率与广东省总体携带率基本一致。本研究对开展该地区的地贫遗传咨询、基因分析及产前诊断工作具有重要的参考价值。

Molecular epidemiology of thalassemia in Yantian district of Shenzhen

Objective To investigate the carrier rate, distribution and the genotype of thalassemia among residents of Yantian district in Shenzhen. Methods Analysis of blood cells was detected by Sysmex SE-9000 automatic hemocyte analyzer while thalassemia gene mutations were detected by Gap-PCR and DNA sequencing for 4 652 residents （under the age of 35）in Yantian district. Results Among 4 652 cases, 497 were thalassemia gene carriers（the overall detected rate was 10.68%）. 377 were α-thalassemia （8.10% ）, 108 were β-thalassemia （2.32%）, 12 were combination of ot and β-thalassemia （0.26%）. Among the genotypes, _SEA （4.77%）and CD41-42 （1.10%） were the most common genotype in α and β-thalassemia, resepectively. Conclusion Thalassemia carrier rate of residents in Yantian district of Shenzhen is basically the same as the rate of Guangdong province. This study is very useful for thalassemia genetic counseling, gene analysis and prenatal diagnosis in this area.