论文部分内容阅读
目的通过对广州市黄埔区群众的地中海贫血筛查、诊断结果进行总结,了解广州市黄埔区群众地贫基因携带率,地贫类型,为本区制定地贫防治工作提供指导。方法通过对2008年1月至2012年12月在广州市黄埔区参加出生缺陷工程的5 306对夫妇孕早期抽血进行地中海贫血初筛,检查到一方或双方初筛阳性者,夫妇均进一步行地贫基因检查,对携带同型地贫基因的夫妇建议产前诊断。结果共检出地贫基因携带者1 338例,单纯性α地中海贫血801例,检出率为7.55%,单纯性β地中海贫血498例,检出率为4.69%,α复合β地中海贫血双重杂合子39例,检出率为0.37%。地贫高风险家庭48户,经产前诊断,确诊10例重型地贫胎儿,均行引产。结论黄埔区的α地中海发生率较广东其他地区稍低,但β地中海贫血发生率偏高,在预防干预时要重视;α复合β地中海贫血双重杂合子的准确检出对于做好优生优育及产前诊断非常重要。
Objective To summarize the screening and diagnosis of thalassemia among the population in Huangpu District of Guangzhou City, and to understand the prevalence of thalassemia carriers and the type of thalamia in Huangpu District, Guangzhou City, so as to provide guidance for the development of thalassemia prevention and control in this area. Methods From January 2008 to December 2012 in Huangpu District, Guangzhou City, 5,306 couples who participated in the birth defects project in the first trimester of blood tests for thalassemia screening, check to one or both of the primary screening positive, the couple were further line Thalassemia genetic tests, prenatal diagnosis of couples carrying the same thalassemia gene. Results A total of 1 338 cases of thalassemia carriers were detected, 801 cases of simple α-thalassemia were detected, the detection rate was 7.55%, 498 cases of simple β-thalassemia, the detection rate was 4.69%, α-thalassemia complex Zygomorph 39 cases, the detection rate was 0.37%. 48 high risk families of thalassemia, prenatal diagnosis, diagnosed 10 cases of severe thalassemia, all induced abortion. Conclusion The incidence of α-Mediterranean in Huangpu District is slightly lower than that in other areas of Guangdong, but the prevalence of β-thalassemia is high and should be taken seriously in prevention and intervention. Accurate detection of double heterozygote of α-thalassemia intermedia is very important for good prenatal and postnatal care Pre-diagnosis is very important.