Identification of a rare synonymous beta globin variant, HBB: c.60C>T in an Afghan Family as a benign variant

Abstract

Beta thalassemia is a common autosomal recessive disorder. In this study, we report a rare beta globin gene variant, HBB: c.60C>T, identified in an Afghan Family. Sequencing of a 30 year old pregnant woman and her children showed that this synonymous variant, when present alongside other pathogenic HBB mutations, does not affect beta globin production. In the proband, hematological findings were not consistent with a beta thalassemia minor phenotype. Although this variant has been reported in Clinvar as a variant of uncertain significance (VUS), our findings support its classification as likely benign.