海南医科大学学报

目的:了解海南省汉族群体α-地中海贫血的发病率及基因型的分布状况。方法:140名海南籍汉族大学生取末梢血0.1mlEDTA抗凝,Chelex-100提取DNA,以中国南方常见的4种α地贫基因型(--SEA/、-α3.7/、-α4.2/、HbCS),用PCR的方法进行检测。结果:检出α-地贫携带者19例占13.5%,其中缺失型α-地贫1杂合子--SEA/αα5例占3.5%;左侧缺失型杂合子-α4.2/αα4例占2.9%;右侧缺失型杂合子-α3.7/αα10例占7.1%未检出HbCS基因。分析结果表明,海南籍汉族大学生中α-地中海贫血的基因频率为0.0728,其中α-地贫1基因频率为0.0178;α-地贫2基因频率为0.0516其中左侧缺失型为0.0147;右侧缺失型为0.0369。结论:海南汉族亦是α-地中海贫血的高发群体。

Objective:To study the incidence and the genotype distribution of α-thalassemia in the HAN nationality in Hainan island. Method:The samples of peripheral blood from from 140 college students born in Hainan were collected and the DNA was extracted by Chelex method and analyzed with PCR method for the α-thalassemia genotypes (--sea/, -α3.7/ -α4.2/2,HbCS ), which were commonly found in the southern Chinese. Results:19 cases of α-thalassemia (13.5%) were found out of 140 students. There were 5 cases of α-thal-1 heterozygous (3.5%),4 left deletion heterozygous (-α4.2/αα) cases(2.9%), and 10 right deletion heterozygous (-α3.7/αα) cases (7.1%) among them. No Hb CS gene was detected. This result showed that gene frequency of α-thalassemia was 0.0728. The gene frequency of α-thal-1 genotype and α-thal-2 genotype were 0.0178 and 0.0516 respectively. Among the gene frequency of α-thal-2, the gene frequency of left deletion heterozygous was 0.0147, and the right deletion heterozygous was 0.0369. Conclusion: There is a high incidence of α-thalassemia in the native Han nationality of Hainan island.