深圳地区α-地中海贫血及αβ-复合地中海贫血的相关性研究  

Research on the correlation betweenα-thalassaemia and αβ-compound thalassaemia in Shenzhen area

作　　者：冉健[1] 裴元元[1] 魏凤香[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：《中国妇幼保健》2016年第7期1468-1471,共4页Maternal and Child Health Care of China

基　　金：广东省深圳市龙岗区科技计划项目(YS2013167)

摘　　要：目的了解深圳地区α-地中海贫血(α-地贫)及αβ-复合地中海贫血(αβ-复合地贫)的基因突变类型,为该地区的遗传咨询、产前诊断、疾病预防提供参考。通过分析筛查指标对常见类型α-地贫的筛查阳性率,为提高地中海贫血(地贫)疾病的筛查效果提供依据。方法地贫基因检测采用Gap-PCR技术检测缺失型α-地贫,膜反向杂交技术检测非缺失型α-地贫及β-地贫。回顾性分析基因确诊的α-地贫及αβ-复合地贫患者的筛查指标:平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)、血红蛋白A2(HbA2)百分比。结果该实验室近2年共确诊α基因缺陷病例654例,包括33种基因型,其中单纯东南亚缺失型病例450例,占68.81%。MCV、MCH、MCHC、HbA2对不同基因型的患者筛查效果有差异,其中对缺失型血红蛋白H病(Hb H病)(--/-α),αβ-复合地贫患者的筛查效率最高。结论深圳地区缺失型α-地贫以--^(sea)/αα为主,非缺失型α-地贫以CS突变为主。MCV、MCH或HbA2筛查指标可有效检出缺失型Hb H病及αβ-复合地贫。Objective To understand the types of gene mutation of α-thalassaemia and αβ-eompound thalassaemia in Shenzhen area, provide reference for genetic counseling, prenatal diagnosis, and disease prevention, provide a basis for improving screening rate of thalassaemia by analyzing the positive screening rates of indexes for α- thalassaemia. Methods Gap- PCR was used to detect deletional α-thalassaemia, membrane reverse hybridization technique was used to detect non-deletional α-thalassaemia and β-thalassaemia. The screening indexes of α-thalassaemia and αβ-compound thalassaemia diagnosed definitely by gene test were analyzed retrospectively： mean corpuscular volume （MCV） , mean corpuscular hemoglobin （MCH）, mean corpuscular hemoglobin concentration （MCHC）, and percentage of hemoglobin A2 （ HbA2） . Results A total of 654 cases with α gene defect were confirmed in the laboratory in the past two years, 33 genotypes were included, the proportion of simple Southeast Asia deletional α-thalassaemia was 68.81% （450 cases） . The screening efficiencies of MCV, MCH, MCHC, and HbA2 were different, the screening efficiencies for cases with deletional hemoglobin H disease （--/-α） and αβ-compound thalassaemia were the highest. Conclusion In Shenzhen area, --sea/αα is the main type of deletional α- thalassaemia, CS mutation is the main type of non-deletional α-thalassaemia. MCV, MCH or HbA2 can efficiently detect deletional hemoglobin H disease and αβ-compound thalassaemia.

关 键 词：缺失型Α-地中海贫血 非缺失型α-地中海贫血 αβ-复合地中海贫血 血常规 血红蛋白电泳 

分 类 号：R556.61[医药卫生—血液循环系统疾病]