广东地区β-珠蛋白生成障碍性贫血复合缺失型α-珠蛋白生成障碍性贫血的分布调查

Investigating the distribution of β-thalassemia combining deletionalα-thalassemia in Guangdong

目的了解广东地区β-珠蛋白生成障碍性贫血(Thal)复合缺失型α-珠蛋白生成障碍性贫血(Thal)的区域分布情况。方法对基因已确诊的242例β-Thal复合缺失型α-Thal(采用PCR结合反向点杂交法检测β-珠蛋白基因17个位点的18种突变;采用单管多重gap-PCR技术检测3种常见的缺失型α珠蛋白生成障碍性贫血基因)进行血液学分析,根据送检医院进行区域归类分布比较。结果 242例β-Thal复合缺失型α-Thal双重杂合子中,深圳、广州、珠三角、粤东、粤西、粤北所占比例分别是27.27%、21.07%、13.22%、6.20%、12.81%、19.42%。其中成人组比例为92.15%,儿童组比例为7.85%。结论广东各地区βThal复合缺失型α-Thal的分布主要以深圳、广州、粤北为主,人群分布以成人居多。本地区是珠蛋白生成障碍性贫血高发区,政府应该通过相应措施进行珠蛋白生成障碍性贫血大规模人群体检、婚前、产前筛查及产前诊断。同时,应进行珠蛋白生成障碍性贫血知识宣传,对优生优育、提高围生期质量及提高人口素质起到了很大作用。

Objective To study the regional distribution of β-thalassemia combining deletional α-thalassemia in Guangdong Province. Methods The hematological study was made in the 242 samples of β-thalassemia combining deletional β-thalassemia iden tiffed by gene testing （Testing 18 different kinds of mutation in 17 β-globin gene sites by PCR combined with reverse dot blot hy- bridization and testing 3 kinds of common deletional α-thalassemia gene by single-tube multiplex gap-PCR technique）. Regional distribution was compared according to the inspected hospitals. Results The results showed that in the dual heterozygote of the 242 β- thalassemia combining deletional α-thalassemia samples, the ratio was 27. 27%,21. 07%, 13. 22 %, 6. 20%, 12. 81%, 19. 42 % in Shenzhen special economic region, Guangzhou downtown, pearl river delta region, East Guangdong Area, West Guangdong Area, North Guangdong Area. The ratio of adult and children groups was 92.15 % and 7.85 % respectively. Conclusion The main distri bution areas of β-thalassemia combining deletional α-thalassemia in Guangdong Province are Shenzhen, Guangzhou and North Guangdong Area and the majority of population is adult. Guangdong Province is the high incidence area of thalassemia, so some measures should be taken by the government for large-scale populations medical screening, premarital screening, prenatal screening, prenatal diagnosing and thalassemia knowledge propaganda. All of these have great significance to bear and rear better children,improve the quality of perinatal period and improve the quality of the population.