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

Abstract

To research the relationship between difference types of α-thalassemia gene types and Hb Bart's hemoglobin bands. 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. There were significant differences in Hb Bart's hemoglobin among the different α-thalassemia mutation types, Hb Bart's was the highest in --SEA/-α3.7 compound heterozygous mutation, then in --SEA/αα single heterozygous deletion type and in -α3.7/-α3.7，-α3.7/-α4.2compound heterozygous mutation, and in αqsα/αα, αcsα/αα single heterozygous point mutation, least in -α3.7/αα and -α4.2/αα single heterozygous deletion type. There were significant difference among the each groups. 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.