摘要
目的：了解佛山地区α与β地中海贫血患者的基因突变类型，为开展佛山地区α与β地中海贫血的遗传咨询，产前诊断和预防计划提供参考。方法：回顾性分析2011年1月至2012年12月佛山市第二人民医院地中海贫血基因检测PCR阳性的351名患者的地贫基因突变类型。结果：351名地中海贫血患者中200名仅地中海贫血患者，其中东南亚型缺失（--^SEA）154例，右侧缺失（-^3.7）20例，左侧缺失（-^4.2）8例，缺失型HbH病（--^SEA／-^3.7）11例，缺失型HbH病（--^SEA／-^4.2）7例。136名β地中海贫血患者，其中CD41-42杂合子53例，ISV-Ⅱ-654杂合子38例，CD28杂合子16例，CD17杂合子13例，CD29杂合子3例，CD43杂合子3例，BE杂合子5例，CD41-42纯合子、CD17纯合子、CD71-72杂合子、CD41-42，ISV—Ⅱ-654双重杂合子、Int杂合子各1例，15名αβ复合型地中海贫血患者。结论：佛山地区的α地贫人群中东南亚缺失型占主导地位，而CD41—42突变与TSV-Ⅱ-654突变是β地中海贫血最常见的基因突变类型。
Objective ： To explore the gene mutadon types of α - thalassemia and β - thalassemia in Foshan area of Guangdong. Methods ： Retrospective analysis the 351 cases of Thalassemia patient from Jan 2011 to Dec 2012 in The Second People＇ s Hospital of Foshan which were detected posdve in PCR method. Results ： Among the 351 ceses,200 cases were α - thalassemia,including 154 cases of - -^SEA, 20 cases of -^3.7 8 cases of-^4.2,11 cases of- --^SEA/-^3.7,7 cases of--^ SEA/-^4.2. 136 cases were β - thalassemia,134 cases were heterozygote,including CD41-42 ISV-Ⅱ-654, CD28, CD17, CD29, CD43, β E, CD71-72, CD41-42 comlex ISV-Ⅱ-654,2 cases ofhomozygote.And 15 cases were α -and β -complex thalassemia. Conclusions ： In Foshan,the most common of α - thalassemia mutation is - -^SEA, the most common of β - thalassemia mutation is CD41-42 and ISV-Ⅱ-65 .
出处
《医学检验与临床》
2013年第2期12-13,16,共3页
Medical Laboratory Science and Clinics
