Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.
Haematology (incl blood transfusion)
Nonalcoholic steatosis
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
09 Jan 2024
09 Jan 2024
Historique:
medline:
10
1
2024
pubmed:
10
1
2024
entrez:
9
1
2024
Statut:
epublish
Résumé
We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia and normal liver enzymes. Spherocytes were detected in a blood smear and a mutation of unknown significance, c.1626+1G>A p.?, in intron 13 of the
Identifiants
pubmed: 38195192
pii: 17/1/e256891
doi: 10.1136/bcr-2023-256891
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.