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Cholelithiasis and Gilbert's syndrome in homozygous β‐thalassaemia
Author(s) -
Galanello R.,
Piras S.,
Barella S.,
Leoni G. B.,
Cipollina M. D.,
Perseu L.,
Cao A.
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.03200.x
Subject(s) - genotype , gastroenterology , gallstones , incidence (geometry) , medicine , disease , thalassemia , gene , pediatrics , genetics , biology , physics , optics
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 (TA 7 ) 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.