南宁地区新生儿地中海贫血筛查结果分析  

Analysis of newborn thalassemia screening in Nanning

作　　者：罗超[1] 李东明[1] 何升[1] 郑海洋[1] 玉晋武[1] 陈少科[1] 郑陈光[1] 

机构地区：[1]广西壮族自治区妇幼保健院,妇产医院,儿童医院,广西南宁530000

出　　处：《现代预防医学》2015年第1期54-57,共4页Modern Preventive Medicine

基　　金：广西地区中间型β地中海贫血3个修饰基因变异位点研究(81260093);遗传代谢病筛查与诊治技术规范化研究(2012BAI09B04);广西地区水肿胎临床分类研究(重2012020)

摘　　要：目的在南宁地区新生儿中进行地中海贫血(地贫)筛查,为临床诊断和早期治疗提供依据。方法应用毛细管电泳法对19 419例新生儿干血斑进行血红蛋白分析,对筛查阳性新生儿召回进行地贫基因分析。结果 19 419例样本中,检出α地贫表型2 085例,β地贫表型1 428例,包括α合并β地贫77例,异常血红蛋白121例。1 085例进行基因分析,α地贫确诊符合率为94.16%(645/685)显著高于β地贫的41.10%(164/399)(χ2=430.067,P<0.01),基因型以αα/--SEA、CD41-42(-TCTT)最常见。α地贫确诊率男与女(χ2=0.029,P>0.05)、壮族与汉族间(χ2=0.028,P>0.05)差异无统计学意义,β地贫确诊率女性高于男性(χ2=17.207,P<0.01)、壮族显著高于汉族(χ2=9.539,P<0.01)。结论南宁地区新生儿地贫的基因突变类型、携带率及表型与人群有关,在本地区开展新生儿地贫筛查很有必要。Objective To screen thalassemia among newborns in Nanning, ultimately to provide evidence for clinical diagnosis and early treatment. Method Sebia capillarys electrophoresis system was used in 19419 newborns＇ dried blood spot for Hb analysis, and the positive newborns further conducted gene test. Result Among them, there were 2085 α-thalassemia phenotypes and 1428 β -thalassemia phenotypes, including 77 cases of mixed type and 121 hemoglobin variants. 1085 conducted gene test, and the accuracy of α-thalassemia （94.16%） was significant higher than that of β -thalassemia （41.10%） （X^2=430.067, P〈0.01）. Common genotypes were ot α α-SEA and CD41--42 （-TC337）. There was no difference regarding accuracy of α-thalassemia between boys and girls （X^2=0.029, P〉0.05）, Zhuang and Han people （X^2=0.028, P〉0.05）, while accuracy for girls was higher than that of boys （X^2=17.207, P〈0.01） and accuracy of β -thalassemia for Zhuang people were higher than that of Han people （X^2=-9.539, P〈0.01）. Conclusion Type of gene mutation, carrier rate and phenotype of thalassemia in Nanning newborns differ over population, so launching newborn thalassemia screening in this area is very necessary.

关 键 词：新生儿疾病筛查 毛细管电泳 地中海贫血 

分 类 号：R17[医药卫生—妇幼卫生保健]