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

Hemoglobin. 2023 Nov;47(4):145-146. doi: 10.1080/03630269.2023.2265294. Epub 2023 Nov 3.

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.

Publication types

  • Case Reports

MeSH terms

  • Codon
  • Female
  • Humans
  • Mutation
  • Nuclear Proteins
  • Phenotype
  • Transcriptional Elongation Factors / genetics
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics

Substances

  • Codon
  • SUPT5H protein, human
  • Nuclear Proteins
  • Transcriptional Elongation Factors