Genetic determinants of jaundice and gallstones in haemoglobin E β thalassaemia

Summary Chronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E βmathfrak halassaemia 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.