Coexistence of hereditary spherocytosis with
Gilbert syndrome
hereditary spherocytosis
jaundice
Journal
Open life sciences
ISSN: 2391-5412
Titre abrégé: Open Life Sci
Pays: Poland
ID NLM: 101669614
Informations de publication
Date de publication:
2024
2024
Historique:
received:
24
02
2024
revised:
23
05
2024
accepted:
03
06
2024
medline:
1
7
2024
pubmed:
1
7
2024
entrez:
1
7
2024
Statut:
epublish
Résumé
A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the peripheral blood. The chief clinical features of HS include anaemia, jaundice, splenomegaly, spherical erythrocytosis in the blood, chronic anaemia with haemolysis, and recurrent acute attacks. Most patients have a family history; some have autosomal recessive inheritance, whereas most have autosomal dominant inheritance. In cases of severe hyperbilirubinemia disproportionate to haemolysis, other causes of hyperbilirubinemia should be considered. Gilbert syndrome (GS) is an autosomal dominant illness caused by the reduced activity of uridine diphosphate-glucuronosyl transferase lAl and is characterised by intermittent hyperbilirubinemia without any other signs or symptoms of liver disease. The possibility of the coexistence of HS and GS is very limited. Here we present the case of an elderly man with yellow skin and sclera recurring anaemia, and a final diagnosis of coexisting HS and GS.
Identifiants
pubmed: 38947766
doi: 10.1515/biol-2022-0904
pii: biol-2022-0904
pmc: PMC11211870
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
20220904Informations de copyright
© 2024 the author(s), published by De Gruyter.
Déclaration de conflit d'intérêts
Conflict of interest: Authors state no conflict of interest.