新生儿脐血血红蛋白电泳HbA在筛查β地中海贫血中的意义

Value of hemoglobin electrophoresis HbA of neonatal cord blood in β-thalassemia Screening

目的研究新生儿脐血血红蛋白电泳HbA在筛查p地中海贫血（以下简称B地贫）中的意义，了解贵港市新生儿B地贫常见的基因突变类型。方法对2012年12月-2013年2月在我院产科足月分娩的1185例新生儿脐血采用琼脂糖凝胶电泳分析，将检测结果HbA〈10％的判为B地贫表型阳性，对表型阳性进一步采用聚合酶链反应（PCR）结合反向点杂交技术（RDB）检测其基因突变类型。结果1185例新生儿中B地贫表型阳性74例，74例B地贫表型阳性检测出p地贫58例，阳性率为78．4％，检出6种突变基因，依次为：41／42（-TCTT）、CD17（A→T）、-28（A→G）、IVS-2—654（C→T）、CD71／72（＋A）、-29（A→G），以41／42（-TCTT）突变类型为主，占42．5％。结论新生儿脐血血红蛋白电泳HbA是一种简便、有效筛查新生儿β地贫的方法，贵港市新生儿β地贫常见的基因突变类型为41／42（-TCTT）、CD17（A→T）、-28（A→G），它们均是广西最常见的β地贫基因突变类型。

Objective： To study the significance of hemoglobin electrophoresis HbA of neonatal cord blood in β thalassemia screening and to find out the common type of gene mutation of β Thalassemia in neonates in Guigang City. Methods ： Adopted agarose gel electrophoresis approach to analysis 1185 cases of cord blood of neonate in term birth from December 2012 to February 2013 in the People＇ s Hospital of Guigang City. For positive β Thalassemia phenotype, in which HbA was lower than 10%, tested the type of gene mutation through a method combining PCR and RDB. Results ： Of the 74 cases of positive β Thalassemia phenotype, which was found among 1185 cases of neonates, there were 58 cases of β Thalassemia, a positive rate of 78.4%. There were six types of gene mutation： 41/42 （-TCTT）, CD17 （A→T）, -28 （A→G）, IVS-2-654 （C→T）, CD71/72 （＋A） and -29 （A→G）. The type of 41/42 （-TCTT） were in the majority, accounting for 42. 5%. Conclusions： The method of hemoglobin electrophoresis HbA of neonatal cord blood in β - thalassemia screening was simple and effective. The common types of gene mutation of neonatal β Thalassemia in Guigang City were 41/42 （ -TCTT）, CD17 （A→T） and -28 （A→G）, which were also the most widely seen in GangXi.