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  • Title: Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia.
    Author: Galanello R, Piras S, Barella S, Leoni GB, Cipollina MD, Perseu L, Cao A.
    Journal: Br J Haematol; 2001 Dec; 115(4):926-8. PubMed ID: 11843828.
    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.
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