Gilbert syndrome in patients with inherited hemolytic anemia modifies the clinical phenotype

Autor: Anika Agrawal, Jagdish Chandra
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Pediatric Hematology Oncology Journal, Vol 9, Iss 2, Pp 62-64 (2024)
Druh dokumentu: article
ISSN: 2468-1245
DOI: 10.1016/j.phoj.2024.02.007
Popis: Gilbert syndrome is a benign condition due to UGT1A1 mutations frequently resulting in mild, indirect hyperbilirubinemia. Inherited hemolytic anemias often present with hyperbilirubinemia and hepatosplenomegaly. Over the years, there have been multiple case reports/series in which the extent of unconjugated hyperbilirubinemia exceeds the extent of anemia. When worked up for the unexplained hyperbilirubinemia, these patients were found to carry mutations corresponding to both immune hemolytic anemia as well as Gilbert syndrome. This article aims to emphasise when to suspect this coexistence and how to approach a patient with inherited hemolytic anemia with unexplained jaundice.
Databáze: Directory of Open Access Journals