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

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.