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目的研究广西贵港地区地中海贫血高风险人群的发病率及基因分布,为预防地中海贫血重症患儿的出生、减少出生缺陷及提高人口素质服务。方法 2011年1月～2011年6月期间,对具有地中海贫血高风险的342人,应用单管多重PCR技术进行α缺失型基因检测以及反向点杂交法检测中国人常见的三种α-地中海贫血点突变和中国人常见的17种β-地中海贫血。结果 342人中检出α-地中海贫血167例,β-地中海贫血101例,α和β地贫双重杂合子9例,检出率为80.99%。结论广西是地中海贫血高发区,应用基因诊断,有效地提高地中海贫血的检出率,对优生优育、干预重症地贫儿出生有着重要作用。
Objective To study the incidence and gene distribution of high prevalence of thalassemia in Guigang area of Guangxi, in order to prevent birth, reduce birth defects and improve population quality in children with severe thalassemia. Methods From January 2011 to June 2011, 342 individuals with high risk of thalassemia were examined by single-tube multiplex PCR for α-deletion gene and reverse dot blot Anemia point mutations and 17 Chinese common β-thalassemia. Results Among the 342 patients, 167 cases of α-thalassemia, 101 cases of β-thalassemia, 9 cases of double heterozygote of α and β thalassemia were detected, the detection rate was 80.99%. Conclusion Guangxi is a high risk area of thalassemia. Using gene diagnosis to effectively increase the detection rate of thalassemia, Guangxi plays an important role in prenatal and postnatal care and in preventing the birth of critically ill children.