期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 115, 期 4, 页码 926-928出版社
BLACKWELL PUBLISHING LTD
DOI: 10.1046/j.1365-2141.2001.03200.x
关键词
cholelithiasis; Gilbert's syndrome; beta-thalassaemia; UGT1-A1; hyperbilirubinaemia
类别
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 (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.
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