A novel SUPT5H variant associated with a beta-thalassaemia trait

Br J Haematol. 2022 Mar;196(6):e70-e71. doi: 10.1111/bjh.17985. Epub 2021 Dec 1.

Authors

Theo Charnay^{1

2}, Mathieu Cerino^{1

2}, Katia Gonnet¹, Nathalie Bonello-Palot^{1

2}, Marie-Pierre Bréchard³, Catherine Badens^{1

2}

Affiliations

¹ Department of genetics, APHM, Marseille, France.
² Aix Marseille Univ, MMG, U 1251, Marseille, France.
³ Department of genetics, Hôpital Saint Joseph, Marseille, France.

PMID: 34854076
DOI: 10.1111/bjh.17985

No abstract available

Keywords: haemoglobinopathies; molecular diagnostics; red cell disorders; thalassaemia.

Publication types

Letter
Comment

MeSH terms

Hemoglobinopathies*
Humans
Nuclear Proteins
Transcriptional Elongation Factors
beta-Thalassemia* / genetics

Substances

Nuclear Proteins
SUPT5H protein, human
Transcriptional Elongation Factors