Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia

Br J Haematol. 2001 Dec;115(4):926-8. doi: 10.1046/j.1365-2141.2001.03200.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cholelithiasis / etiology*
  • Cholelithiasis / genetics
  • Female
  • Genotype
  • Gilbert Disease / genetics*
  • Glucuronosyltransferase / genetics
  • Homozygote
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Promoter Regions, Genetic
  • Risk Factors
  • TATA Box
  • beta-Thalassemia / genetics*

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase