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

We identified a novel mutation in the SUPT5H gene in a Chinese female who presented with a beta-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 beta-thalassemia trait. Our case further supports the role of SUPT5H as a potential beta-globin chain production-modulating gene.

Automated summary

We identified a novel mutation in the SUPT5H gene that may be associated with beta-thalassemia trait. This mutation leads to premature stop codon and may result in haploinsufficiency. It was inherited from the mother who also had the asymptomatic phenotype. This finding further supports the role of SUPT5H as a potential modulating gene for beta-globin chain production.