摘要
目的了解海南省南部地区(琼南地区)汉族和黎族小细胞性贫血个体地中海贫血(地贫)检出率及基因型分布情况。方法对琼南地区体检者中平均红细胞体积(MCV)<82 fl的汉、黎两民族个体,采用Gap-PCR方法和PCR-反向斑点杂交(PCR-RDB)技术进行α-、β珠蛋白突变基因检测,统计分析2民族小细胞性贫血个体地贫的检出率及珠蛋白基因突变情况。结果共调查小细胞性贫血个体1 434例,包括汉族808例(56.35%),黎族626例(43.65%);α-地贫、β-地贫及α/β复合型地贫检出率在汉族个体依次为39.11%、10.15%及2.48%,而在黎族个体依次为59.11%、14.06%、12.94%,3者检出率黎族均明显高于汉族(χ2分别为56.522、5.158及58.991,均为P<0.05);汉、黎2民族α-地贫基因均以缺失型为主,并以-α3.7/αα及-α4.2/αα最为常见,等位基因-α3.7、-α4.2及--SEA构成比,在汉族个体分别为31.88%、32.85%及27.30%,在黎族个体分别为41.22%、41.29%及10.99%;共检出9种β-地贫点突变,汉族个体以CD41-42为主(43.12%),βIVS-II-654(18.35%)及CD17(12.85%)次之,而黎族个体CD41-42高达89.89%,其它突变较为罕见。结论琼南地区地贫高发,进一步加大本地区地贫防控知识宣教力度,引导人们做好地贫筛查及产前诊断十分必要。
Objective To understand the detection rate and genotype distribution of thalassemia in Li and Han individu- als with microcytic anemia in South Hainan. Methods For the Han and Li individuals in South Hainan who were identified with a mean corpuscular volume （MCV） lower than 82 fl when doing physical examination, Gap-polymerase chain reaction （Gap-PCR） and PCR - reverse dot-blot hybridization （PCR-RDB） techniques were used to detect gene mutation in alpha and beta globins. The detection rates and globin gene mutation of thalassemia from the individuals with microcytic anemia in two nationalities were statistically analyzed. Results A total of 1 434 individuals with microcytic anemia were investigated, which included 808 Han individuals （56. 35% ） and 626 Li individuals （43.65%）. Among Han individuals, the detectionrates of ct-thalassemia, 13-thalassemia and α/β- thalassemia were respectively 39. 11%, 10. 15% and 2.48%. However, in Li in- dividuals, the detection rates of α-thalassemia,β-thalassemia and α/β-thalassemia were respectively 59. 11%, 14. 06% and 12. 94%. The detection rates of the three types of thalassemia in Li nationality were all significantly higher than in Han nationality （the chi-square values were respectively 56.522, 5. 158 and 58. 991, P〈0. 05）. In Han and Li nationalities, the major ct-thalassemia genotypes were deletion types： -α3.7/αα and - α4. 2/αα were the most common genotypes. The proportion of allele -α3.7, -α4. 2 and --SEA in Han individuals were re- spectively 31.88%, 32. 85% and 27.30% ; in Li individuals, they were respectively 41.22%, 41.29% and 10. 99% ; A to- tal of nine different 13-thalassemia mutations were identified. In Han individuals, the most common mutation for β-thalassemia was CD41-42 （ accounting for 43.12%）, followed by βIVS-Ⅱ-654 （ accounting for 18.35%） and CD17 （ accounting for 12. 85% ）, while in Li individuals , the proportion of CD41-42 was 89. 89%, but other mutations were rare. Conclusion There was high prevalence of thalassemia in south Hainan. It is extremely essential to further enhance prevention efforts and disseminate knowledge about thalassemia in the area, and to guide local residents to seek for screening and obtain prenatal diagnosis of thalassemia.
出处
《中国输血杂志》
CAS
北大核心
2016年第12期1376-1379,共4页
Chinese Journal of Blood Transfusion
基金
海南省自然科学基金(20158322)
海南省卫生厅医学科研课题重点项目(琼卫2013重点-07号)
三亚市医疗卫生科技创新项目(2014YW22)
海南省医药卫生科技项目(15A200051)
关键词
小细胞性贫血
地中海贫血
基因型
汉族
黎族
microcytic anemia
thalassemia
genotype
Han nationality
Li nationality
