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- Title
Cholelithiasis and Gilbert's syndrome in homozygous β-thalassaemia.
- Authors
Galanello, R.; Piras, S.; Barella, S.; Leoni, G. B.; Cipollina, M. D.; Perseu, L.; Cao, A.
- Abstract
Cholelithiasis has been reported with a variable incidence in homozygous β-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of cholelithiasis and the effect of co-inherited Gilbert's syndrome genotype on its development in 261 thalassaemia major (TM) and 35 thalassaemia intermedia (TI) patients. Cholelithiasis was found in 20·3% of TM and in 57·1% of TI patients. Its incidence was higher (P < 0·05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients.
- Subjects
GALLSTONES; THALASSEMIA; HYPERBILIRUBINEMIA
- Publication
British Journal of Haematology, 2001, Vol 115, Issue 4, p926
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1046/j.1365-2141.2001.03200.x