论文部分内容阅读
目的报道近两年佛山地区地中海贫血的基因突变类型和产前基因诊断情况。方法对2007年7月至2009年7月来我院进行产前检查的患者进行筛查,怀疑地中海贫血的患者进一步行基因诊断,夫妇双方确诊为同型地中海贫血的孕妇抽取羊水或脐血进行产前基因诊断。回顾资料,统计出近两年来佛山地区的地中海贫血基因突变类型和产前基因诊断情况。结果β地贫基因诊断2569人次,阳性率为33.94%(872/2569),共发现12种β地中海贫血基因突变类型,其中41-42型杂合突变占42.09%;α地贫基因诊断3243人次,阳性率为40.64%(1318/3243),其中东南亚缺失型占74.81%。产前诊断检测出41例中重型β地中海贫血胎儿,26例bart′s水肿胎,15例血红蛋白H病胎儿。结论产前筛查和产前诊断是控制佛山地区重型地中海贫血患儿出生的有效和必要手段。
Objective To report the gene mutation types and prenatal diagnosis of thalassemia in Foshan area in recent two years. Methods From July 2007 to July 2009 to our hospital for prenatal screening screening, suspected thalassemia patients further line gene diagnosis, both sides confirmed the same type of thalassemia pregnant women with amniotic fluid or cord blood for production Pre-gene diagnosis. Review data, statistics of the past two years in Foshan, thalassemia gene mutation types and prenatal diagnosis. Results The number of β-thalassemia gene was 2569, with a positive rate of 33.94% (872/2569). A total of 12 types of β-thalassemia mutations were found, 41.09 of which were heterozygous mutations (42.09%), and the diagnosis of α-thalassemia was 3243 , The positive rate was 40.64% (1318/3243), of which 74.81% were missing in Southeast Asia. Prenatal diagnosis of 41 cases of β-thalassemia major, 26 cases of bart’s hydropic fetal, 15 cases of hemoglobin H fetus. Conclusion Prenatal screening and prenatal diagnosis are effective and necessary measures to control the birth of children with thalassemia major in Foshan area.