厦门地区α地中海贫血发病率及基因诊断前期研究

Earlier stage study on incidence and genic mutation types of α-thalassemia in Xiamen area

目的分析厦门地区α地中海贫血的发病率及基因类型,探讨在厦门地区开展α地中海贫血的基因诊断及产前诊断的意义。方法2006年3月至2007年12月,对具有α地中海贫血高风险的594人,应用以缺口PCR(gap-PCR)为原理的单管多重PCR技术进行α基因检测,对夫妻双方均为α地中海贫血的孕妇采用介入性穿刺产前诊断技术或超声检查进行产前诊断。结果1.594人中检出α地中海贫血239人,发病率达40.2%,具体基因分布:东南亚缺失型(--SEA)209例,占87.4%,右侧缺失型(-α3.7)12例,占5%,左侧缺失型(-α4.2)5例,占2.1%,缺失型血红蛋白H病12例,占5%。2.发现夫妻双方均为东南亚缺失型α地中海贫血的孕妇共有12人,有8人采用超声介导下羊膜腔穿刺术或脐血管穿刺术,发现重度α地中海贫血6例,2例为轻型α地中海贫血,另有4人采用超声检查进行诊断排除重度α地中海贫血,出生后证实3例为轻型α地中海贫血,1例正常。3.本研究对象中有148例孕妇在本院分娩,随访妊娠结局,发现这些孕妇的不良生育史、早产、产后出血、子痫前期的发病率均明显高于非地贫组的孕妇,P<0.05。结论厦门地区是α地中海贫血的高发区,在厦门地区开展α地中海贫血的基因诊断及产前诊断具有非常重要的意义。

Objective： To investigate the incidence and genic mutation types of α -thalassemia in Xiamen area, and explore the significance about genic diagnosis and prenatal diagnosis of α - thalassemia, Methods ： From March 2006 to December 2007, 594 people with high risk about thalassemia were diagnosed by means of ＂a single tube multiplex PCR based the gap PCR principle＂, and prenatal diagnosis were done on both of the couples were α - thalassemia carries by interventional puncture or ultrasound examination. Results： 1. 239 patients were detected among 594 people, which meant the incidence of α - thalassemia was 40. 2% , genotype as follows ： - - SEA/αα （87.4%）, 12 cases were αα/- α^3.7 （5%）, 5 cases were αα/- α^4.2 （2. 1% ） , 12 cases were HbH disease （5%）, 2. 12 couples were found with both α -thalassemia carries （ - -SEA/αα） , amniocentesis or cordocentesis were done on 8 couples, and 6 cases were found with severeα - thalassemia, 2 cases were - - SEA/αα carries. Another 4 cases were done by ultrasound examination remove severe α - thalassemia, among which 3 cases were found - - SEA/αα arries and 1 case was normal after born, 3. There were 148 pregnant women with α -thalassemia deliveried in our hospital. Follow their pregnant outcome, we found the incidence of abnormal pregnant history, premature delivery, postpartum hemorrhage and preeclampsia was higher than non - thalassemia pregnant women, P 〈0. 05, Conclusion： Xiamen is the area with high risk ofα -thalassemia. It should be useful for developing genic diagnosis and prenatal diagnosis in the area.