Work

The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G

Year: 2024

Type: article

Abstract: Objectives To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China.Methods The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.Results The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA2 ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB:c.316-146T > G, the other one was heterozygous mutation of HBB:c.316-146T > G combined with –SEA deletion.Conclusion The hematological phenotype of HBB:c.316-146T > G mutation carriers is similar to that of common β+ heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.

Source: Hematology

DOI: 10.1080/16078454.2024.2433188