深圳市龙岗区大鹏地区珠蛋白生成障碍性贫血的流行病学研究

目的探讨深圳市龙岗区大鹏地区珠蛋白生成障碍性贫血的发病率以及主要突变基因类型。方法从本地居民和外来人群中随机抽取各300名一般资料相匹配的健康人群作为研究对象,年龄15～50岁,评估两组人群珠蛋白生成障碍性贫血的发病率,以及主要突变基因类型。结果 (1)本地区居民α-珠蛋白生成障碍性贫血发病率高于β-珠蛋白生成障碍性贫血,而外来人群两种类型珠蛋白生成障碍性贫血发病率无明显差别;同时,深圳市龙岗区大鹏地区本地居民α-珠蛋白生成障碍性贫血发病率高于外来人群,差异有统计学意义(P<0.05);(2)深圳市龙岗区大鹏地区本地居民α-珠蛋白生成障碍性贫血基因类型主要为--SEA/αα和--α4.2/αα,而外来人群α-珠蛋白生成障碍性贫血突变基因类型则均匀分布;(3)深圳市龙岗区大鹏地区本地居民β-珠蛋白生成障碍性贫血基因类型主要为CD41-42和CD17,而外来人群β-珠蛋白生成障碍性贫血突变基因类型也均匀分布。结论深圳市龙岗区大鹏地区原居民与外来人群珠蛋白生成障碍性贫血发病率,以及所携带主要突变基因类型间差异有统计学意义。

Epidemiological study of thalassanemia in Dapeng district of Shenzhen

Objective To investigate the morbidity and main genic mutation of thalassanemia in DaPeng District of Shenzhen. Methods 300 subjects with ages of 15- 50 whose information was matched were randomly e rolled from local populations and the immigrations and the morbidity and main genic mutation of thalassanemia were compared between these two subjects. Results （1） The morbidity of α-thalassanemia was higher than that of β- thalassanemia,while there was no difference of morbidity of these two kinds of thalassanemia in immigrated group, and the morbidity of α-thalassanemia in the local populations was significantly higher than that in the immigrated group（P〈0.05）. （2） the main genic mutations of α-thalassanemia in the local populations were-SEA/αα and-α^4.2/ αα, while the distributions of the genic mutations in the immigrated group were equal. （3）The main genic mutations of β-thalassanemia in the local populations were CD41-42 and CD17 ,while the distributions of the genic mutations in the immigrated group were also equal. Conclusion The morbidity and the main genic mutations of thalassanemia are different between the local populations and the immigrations.