[Hb Bart's Quantitative Analysis in the Screening of α-Thalassemia]

Abstract

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^4.2compound heterozygous mutation, and in α^qsα/αα, α^csα/αα single heterozygous point mutation, least in -α^3.7/αα and -α^4.2/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.