广东省中山市新生儿α-地中海贫血筛查回顾性分析

Anaiysis of screening for neonate with α-thalassemia screening in Zhongshang

目的探讨脐血Hb Bart's含量对α-地中海贫血分型的价值,分析中山地区人群中α-地中海贫血的发生率,为全市开展新生儿α-地中海贫血期筛查工作,提供科学依据。方法对2009年6月-2010年3月出生新生儿采取脐血进行α-地中海贫血血红蛋白电泳初筛,并对疑似α-地中海贫血者采用跨越断裂点PCR(gap-PCR)技术进行基因确诊实验,根据基因确诊结果和高效毛细管电泳技术筛查新生儿脐带血的结果,运用统计学方法分别得出α-地中海贫血静止型、标准型、Hb H病和Hb Bart's胎儿水肿综合征的Hb Bart's含量参考范围。统计分析中山地区新生儿不同类型α-地中海贫血的发生率。结果 1.Hb Bart's含量参考范围为:静止型为0～1%,标准型范围1%～10%。其中10份Hb Bart's含量0～1%中有1份确诊为标准型,85份1%～10%中有1份确诊为静止型。2.在11 194例脐带血样本中,检出Hb Bart's阳性样品595例(5.31%),Hb Bart's含量0～1%有118例(1.05%),1～10%有463例(4.14%),大于10%有14例(0.12%)。结论 1.新生儿脐血血红蛋白电泳只能做为α-地中海贫血初筛试验,不能准确对其进行分型。具体分型需要PCR技术做基因确诊。2.中山市新生儿α-地中海贫血初筛携带率为5.31%,其中静止型,标准型和Hb H的携带率分别为1.05%,4.14%,0.12%。3.脐血血红蛋白电泳筛查简便、快速且经济,并能初步估算α-地中海贫血携带者的α基因缺失情况,可作为α-地中海贫血常规筛查的方法。

Objective：According to the mediterranean anaemia genes treated in the experiments analysis the newborn mediterranean anaemia different types of Hb Bart′s content and statistical analysis Zhongshan parts of the different types of the alpha and mediterranean anaemia rates,for clinical diagnosis alpha-mediterranean anaemia is to provide for laboratory.Method：Using gap-PCR to cord blood to take place α-mediterranean anaemia genes treated experiment,accord the result,use statistics method respectively set at rest,standard,Hb H and Hb Bart′s syndrome child edematous for the Hb Bart′s content.To June 2009 to March newborns cord blood to Hemoglobin electrophoresis early screening,statistical analysis Zhongshan parts of the different types of the alpha and mediterranean anaemia rates.Result：Hb Bart′s levels reference range：static type is 0 to 1%,standard range from 1% to 10%.10 copies Hb Bart′s content in 0%~ 1% is treated as standard has one,2.In the 11,194 cases of cord blood samples,Hb Bart′s positive samples detected in 595 cases（5.31%）,Hb Bart′s levels 0 and 1% of 118 cases（1.05%）,1 ~ 10% of the 463 cases（4.14%）,greater than 10% of 14 cases（0.12%）.Conclusion：1.Newborns cord blood hemoglobin electrophoresis can do to alpha and mediterranean anaemia is the eerily screening test,cannot be accurately on the point.Specific points,PCR technique to do gene treated.2.Zhongshan newborns＇mediterranean anaemia is the first screening for 5.31%,of stationary,standard and portable Hb H of the rate of 1.05% 4.14% 0.12%.3.Cord blood screen is convenient,fast and economic,and then to alpha,to preliminary estimate of the mediterranean anaemia carry genetic information.the loss of alpha