Hb Bart's定量分析在α地贫筛查中的应用

Hb Bart’s Quantitative Analysis in the Screening of α-Thalassemia

目的:研究不同α地贫基因类型与Hb Bart’s血红蛋白条带的对应关系。方法:收集2020年1-12月在湖北省新生儿疾病筛查中心进行毛细管电泳的新生儿地中海贫血筛查的样本信息,对电泳结果判读为病理曲线的对象采用PCR-导流杂交法或PCR-NGS法进行基因分型鉴定。比对患者的α地贫基因检测结果与Hb Bart’s血红蛋白的关系,并进行统计学分析。结果:不同α地贫突变类型的Hb Bart’s血红蛋白条带存在显著性差异,Hb Bart’s含量从高到低依次为--^(SEA)/-α^(3.7)复合杂合突变、--^(SEA)/αα单杂合缺失型,-α^(3.7)/-α^(3.7),-α^(3.7)/-α;复合杂合突变、α^(QS)α/αα,α^(CS)α/αα单杂合点突变型、-α^(3.7)/αα及-α^(4.2)/αα单杂合缺失型,各组之间差异存在统计学意义。结论:不同基因型的α地贫Hb Bart’s含量有极显著性差异,Hb Bart’s含量在α地贫筛查及基因类型的鉴别中有较高的应用价值。

Objective: To research the relationship between difference types of α-thalassemia gene types and Hb Bart’s hemoglobin bands. Methods: Capillary electrophoresis was used to screen thalassemia gene for the newborn form January 2020 to December 2020,and the thalassemia gene was detected by PCR or PCR-NGS in the positive patients.The relationship between α-thalassemia gene and Hb Bart’ s hemoglobin was compared and analyzed statistically.Results: There were significant differences in Hb Bart’s hemoglobin among the different α-thalassemia mutation types,Hb Bart’s was the highest in--^(SEA)/-α^(3.7)compound heterozygous mutation,then in--^(SEA)/αα single heterozygous deletion type and in-α^(3.7)/-α^(3.7),-α^(3.7)/-α^(4.2)compound heterozygous mutation,and in α^(3.7)α/αα,α^(4.2)α/αα single heterozygous point mutation,least in-α^(QS)/αα and-α^(CS)/αα single heterozygous deletion type. There were significant difference among the each groups. Conclusion: The Hb Bart’s content of different genotypes of α-thalassemia are significantly different. The Hb Bart’s content shows high application value in α-thalassemia screening and genotyping identification.