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
• β-thalassemia
• SUPT5H
• molecular diagnostics

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was supported by the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088] and Guangdong Natural Science Foundation (2023A1515010402), Guangdong Province, People’s Republic of China.