β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report

Abstract

We identified a novel mutation in the SUPT5H gene in a Chinese female who presented with a β-thalassemia trait. The substitution of c.193C > T (p.Arg65*) leads to a premature stop codon on residue 65 and could be associated with haploinsufficiency. This variant was inherited from the mother who also had the asymptomatic phenotype of β-thalassemia trait. Our case further supports the role of SUPT5H as a potential β-globin chain production-modulating gene.

Keywords: Haemoglobinopathies; SUPT5H; molecular diagnostics; β-thalassemia.