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Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia
R Galanello1, S Piras, S Barella
1Ospedale Regionale Microcitemie, Dipartimento di Scienze Biomediche e Biotecnologie, University of Cagliari, Via Jenner s.n. 09121, Cagliari, Italy. renzo.galanello@mcweb.unica.it
Abstract:
Cholelithiasis has been reported with a variable incidence in homozygous beta-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.