中山市α-地中海贫血的新生儿筛查  

Neonatal screening for α-thalassemia in Zhongshan City

作　　者：何晓玲[1] 张翠梅[1] 冯华俊[1] 

机构地区：[1]南方医科大学附属中山市博爱医院儿童保健科,广东中山528403

出　　处：《右江民族医学院学报》2010年第4期488-490,共3页Journal of Youjiang Medical University for Nationalities

基　　金：广东省医学科研基金立项课题(项目编号2008824);中山市专项规划及调研课题;中山市科技局项目(项目编号20082A120)

摘　　要：目的调查中山市被筛查的新生儿中脐血Hb Bart水平及α-地中海贫血(简称α-地贫)的基因携带率。方法以分层抽样采集2 500例中山市户籍新生儿脐血,采用高效毛细管电泳(HPCE)进行Hb Bart定量测定,并对所有样品进行α-地贫基因型分析。结果在2 500例脐带血样本中,检出Hb Bart阳性样品183例,阳性率为7.32%,此外,还检出异常Hb 14例。经基因分析,255例被确诊为α-地贫基因型。有83例α3.7/αα、α4.2/αα和2例--SEA/αα基因携带者检出自Hb Bart阴性样品中。中山市户籍人群中α-地贫基因携带率为10.32%。结论中山市是α-地贫基因高发区,普遍开展新生儿α-地贫筛查对α-地贫的预防工作具有重要意义。Hb Bart水平不宜作为诊断静止型α-地贫的筛查指标。Objective To investigate the value sof Hb Bart＇s and the genetic carrier rate of α- thalassemia in neonatal screening for α- thalassemia in Zhongshan city. Methods cord blood samples from neonates were collected in Zhongshan city. Stratified sampling was used. 2 500 umbilical The high performance capillary electrophoresis （HPCE） for Hb Bart quantitative determination and gene analysis were carried out on all of the samples. Results 183 samples （7.32 % ） with Hb Bart＇s positive were detected from the 2 500 umbilical cord blood samples. Moreover, 14 cases of Hb abnormity were also detected. By gene analysis, 255 individuals of α- thalassemia genotypes were identified. It is noticeable that 83 carriers of α3.7/αα or α4.2/αα and 2 carriers of - - SEA/αα were detected from Hb Bart＇ s negative samples. The a - thalassemia carrier rate of inhabitants in Zhongshan city is 10.32 %. Conclusion Zhongshan city is the area with high risk of a- thalassemia. It should be useful of popularly neonatal screening for α- thalassemia in this area. Hb Bart＇ s is not suitable as the screening indices for diagnosis of α - thalassemia silent carrier.

关 键 词：Α地中海贫血 婴儿 新生 新生儿筛查 

分 类 号：R174.6[医药卫生—妇幼卫生保健] R725.567.1[医药卫生—公共卫生与预防医学]