广西地区泰国缺失型α-地中海贫血的调查研究  

Study on the value of Thailand deletion of thalassemia in the region of Guangxi

作　　者：阙婷[1] 张强[1] 唐燕青[1] 何升[1] 李东明[1] 黄朋[1] 周林[1] 赖允丽[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530003

出　　处：《国际检验医学杂志》2013年第13期1703-1704,1706,共3页International Journal of Laboratory Medicine

摘　　要：目的探讨广西地区泰国缺失型α-地中海贫血的检出率和血液学特点,减少或避免重型胎儿的出生。方法收集2011年12月至2012年11月静脉外周血,采用Gap-PCR方法进行泰国缺失型α-地中海贫血基因检测。结果发现55例泰国型缺失型α地贫,检出率为0.61%,40例为泰国型缺失杂合子,15例为泰国型HbH病(5例-THAI/α4.2,4例-THAI/α3.7,5例-THAI/αCSα,1例-THAI/αWSα)。结论广西地区泰国缺失型α-地中海贫血具有较高的携带率,应列为常规项目进行基因诊断和产前诊断。Objective To explore the distribution rate of the thailand deletion of thalassemia and reduce or avoid the fetus birth defects in guangxi people.Methods From December 2011 to November 2012 a total of 8 985 patients venous blood,detection the type of thailand thalassemia by using the method of gap-polymerase chain reaction（Gap-PCR）.Results 8 985 cases were found 84 cases of thailand deletion of thalassemia,the detection rate was0.61%,among which40 cases cases of Thailand type of deletion heterozygous,15 cases were the tape of Thailand HbH disease（5cases of THAI/α4.2and 4 cases of THAI/α3.7,5cases of THAI/αCSα,1 case THAI/αWSα）.Conclusion The region of guangxi Thailand deletion thalassemia of alpha have high ca rrying rate and shall be classified as conventional genetic diagnosis or prenatal diagnosis.

关 键 词：广西 Α地中海贫血 聚合酶链反应 产前诊断 

分 类 号：R556[医药卫生—血液循环系统疾病]