A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.

Abstract

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.

• Authors: Min Jae Lee, Yoon Hwan Chang, Seung Hwa Kang, Se Kwon Mun, Heyjin Kim, Chul Ju Han, Jin Kim, Hye Jin Kang
• Journal: The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi (Korean J Gastroenterol) Vol. 61 Issue 3 Pg. 166-9 (Mar 25 2013) ISSN: 2233-6869 [Electronic] Korea (South)
• PMID: 23575236 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glucuronosyltransferase

Topics

• Adult
• Erythrocytes (physiology)
• Gallstones (etiology)
• Genotype
• Gilbert Disease (complications, diagnosis, genetics)
• Glucuronosyltransferase (genetics)
• Hemolysis
• Humans
• Hyperbilirubinemia (etiology)
• Male
• Polymorphism, Single Nucleotide
• Spherocytosis, Hereditary (complications, diagnosis, genetics)
• Splenomegaly (etiology)