αβ复合型地中海贫血及非缺失型α-地中海贫血患者基因检测的相关研究  

The study of αβ compound thalassemia and non-deletion α thalassemia

作　　者：裴元元[1] 魏凤香[1] 刘秀菊[1] 冉健[1] 

机构地区：[1]深圳市龙岗区妇幼保健院中心实验室,广东深圳518172

出　　处：《中国优生与遗传杂志》2013年第10期20-21,共2页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金项目编号:81201568

摘　　要：目的分析深圳地区人群的αβ复合型地贫及非缺失型α-地贫的常见基因突变类型及血液学特征。方法收集2012年7月-2013年1月来我院中心实验室进行地贫基因检测的地贫疑似患者。检测中国人群中最常见的17种β-地贫突变、3种α-地贫点突变及3种缺失型α-地贫基因改变。并对阳性病例进行血液学分析。结果 236例经基因确诊为地贫的患者中有非缺失型α基因突变12例,WS位点突变频率最高;αβ复合型地贫11例,CD41-42杂合突变合并--SEA/αα最常见。结论深圳地区αβ复合型地贫发生率为4.7%,略高于全省平均水平;最常见的非缺失型α地贫突变为WS位点突变,与先前文献报道略有不同。Objective： To analyze the genotype and hematological features of αβ compound thalassemia and non - deletion α thalassemia in Shenzhen. Methods： The suspected thalassemia patients were analyzed in our hospital from July of 2012 to January of 2013. The most common mutations in Chinese population were detected. Hematology was also detected for positive patients. Results： 236 cases with thalassemia were detected. There are 12 cases with non -deletion alpha gene mutation, and WS mutation frequency is the highest; 11 cases with αβ compound thalassemias were detected, and CD41 -42 heterozygous mutation associated with - -^SEA/ αα is the most common. Conclusion： The detection rate of αβ compound thalassemia is 4.7% in Shenzhen, slightly higher than the average level of the province. The most common mutation of nondeletion alpha thalassemia is WS, which is different with the previous report.

关 键 词：αβ复合型地中海贫血 非缺失型仪一地中海贫血 基因型 血液学表现 

分 类 号：R556.71[医药卫生—血液循环系统疾病]