佛山地区地中海贫血的产前筛查和产前基因诊断

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。

Prenatal screen and prenatal diagnosis of thalassemia in Foshan area.

Objective： To report the mutation genotype of thalassemia and prenatal diagnosis in last two years in Foshan area. Methods ： From July 2007 to July 2009, all patients were required hemotologic detection for thalassemia. 3486 doubtful thalassemia suffers were identified by gene diagnosis. Prenatal diagnosis was done on the fetus whose parents were the same type thalassemia. Resuits： 12 mutation types of 13 thalassemia were detected, which about 42. 09% were 41 -42/N. The incidence of 13 thalassemia is 33. 94% （872/2569）. The incidence of α thalassemia is 40. 64% （1318/3243）, in which about 74. 81% were -^SEA/αα. For prenatal diagnosis, 41 cases were homozygote or double heterozygote of β thalassemia, 26 cases were Hb bart＇s dropsy, and 15 cases were Hb H disease. Conclusion ： Prenatal screen and prenatal diagnosis is an effective and necessary measure to reduce the birth of severe thalassemia patients.