选择性α基因检测诊断地中海贫血高风险夫妇方法研究  

Study on the Diagnosis of Thalassemia High-risk Couple by Selective α Gene Detection

作　　者：周艳洁[1] 朱茂灵 阮丽明[1] 刘鲲[1] 丁进龙 黄水芬 

机构地区：[1]广西南宁市人口和计划生育服务中心,广西南宁530022

出　　处：《实用预防医学》2013年第6期659-662,共4页Practical Preventive Medicine

基　　金：广西卫生厅课题项目(Z2010014);广西人口和计划生育委员会课题项目(桂人口计生研01-2010-001)

摘　　要：目的探讨准确、经济的检测地中海贫血(地贫)高风险夫妇技术路线,降低地贫出生缺陷干预成本。方法将1 000对(2 000例)广西籍已婚待育夫妇随机分为对照组及实验组,每组500对,两组人群全部做血细胞分析,对一方或双方红细胞平均体积(MCV)低于80 fL的夫妇做血红蛋白(Hb)电泳。筛出所有β地贫高风险夫妇及小部分α地贫高风险夫妇。在筛出的高风险夫妇之外的所有已做电泳的夫妇中:实验组选择夫妇中携带α地贫基因可能性小的一方先做α地贫基因检测,再将检出的α地贫基因携带者的配偶做α地贫基因检测;对照组将所有人全部做α地贫基因检测。结果两组中高风险夫妇的检出率差异无统计学意义(P>0.05),但对照组地贫基因检测率(100%)将近是实验组(52.74%)的两倍,差异有统计学意义(P<0.05)。结论选择性α基因检测诊断地中海贫血高风险夫妇,方法简单易操作、经济、准确、高效,适宜推广。Objective To explore accurate and economic technical route to detect thalassemia high risk couple,so as to reduce the cost of birth defect intervention.Methods A total of 1,000 married couples（2,000 cases） who waited for children to bear in Guangxi were randomly divided into the control group and experimental group with 500 couples for each group.Blood was collected in all of the research objects for blood cell analysis.Couples with blood from one or two of them having mean corpuscular volume（MCV） less than 80 fL further received hemoglobin（Hb） electrophoresis.All β thalassemia high-risk couples and a small fraction of α thalassemia high-risk couples were screened out.For the couples subject to Hb electrophoresis but not screened out,in the experiment group,the one who had smaller possibility to carry α thalassemia gene was subject to α thalassemia gene detection first,and the spouses of α thalassemia gene carriers were then subject to α thalassemia gene detection,while for the couples in the control group,all cases received α thalassemia gene detection.Results The was detection rate was not significantly different among the group of couples with middle and high risk of thalassemia,while the detection rate of thalassemia gene in the control group was almost twice of that in the experiment group,which were statistically different.Conclusions Selective α gene detection is a simple,easy to operate,economic,accurate and efficient method to diagnose thalassemia.It is suitable for popularization.

关 键 词：地中海贫血 高风险夫妇 基因干预 

分 类 号：R556.5[医药卫生—血液循环系统疾病]