Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia

Chronic hyperbilirubinaemia, gallstone formation, and bladder disease are u nusually common in people with haemoglobin E beta thalassaemia in Sri Lanka . To determine whether this has a genetic basis we compared the bilirubin l evels 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 r espectively), who also appeared more prone to gallstone formation. These re sults suggest that the UGT*1 genotpe is of importance in the genesis of gal lstones in this population of patients.