Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia

Lancet. 2001 Jun 16;357(9272):1945-6. doi: 10.1016/s0140-6736(00)05082-0.

Abstract

Chronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E beta thalassaemia in Sri Lanka. To determine whether this has a genetic basis we compared the bilirubin levels and frequency of gallstones in patients with different alleles of the UGT*1 gene. There was a significantly higher bilirubin level in those with the 7/7 genotypes compared with 6/6 and 6/7 genotype (p=0.032 and 0.0015 respectively), who also appeared more prone to gallstone formation. These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients.

MeSH terms

  • Alleles
  • Bilirubin / blood*
  • Cholelithiasis / blood
  • Cholelithiasis / genetics*
  • Gene Frequency
  • Genotype
  • Glucuronosyltransferase / genetics
  • Hemoglobin E / genetics*
  • Humans
  • Jaundice / blood
  • Jaundice / genetics*
  • Monosaccharide Transport Proteins / genetics
  • Promoter Regions, Genetic
  • Sri Lanka
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • Monosaccharide Transport Proteins
  • UDP-galactose translocator
  • Hemoglobin E
  • UDP-glucuronosyltransferase isoenzyme 1.1
  • Glucuronosyltransferase
  • Bilirubin