Journal
HEMOGLOBIN
Volume 47, Issue 4, Pages 145-146Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/03630269.2023.2265294
Keywords
Haemoglobinopathies; beta-thalassemia; SUPT5H; molecular diagnostics
Categories
Ask authors/readers for more resources
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.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available