Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia.
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.
Premawardhena
A
A
Fisher
C A
CA
Fathiu
F
F
de Silva
S
S
Perera
W
W
Peto
T E
TE
Olivieri
N F
NF
Weatherall
D J
DJ
D000483:Alleles; D001663:Bilirubin / Q000097:blood*; D002769:Cholelithiasis / Q000097:blood / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D007565:Jaundice / Q000097:blood / Q000235:genetics*; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D011401:Promoter Regions, Genetic; D013188:Sri Lanka; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*; D000099237:UDP-Galactose Translocators
D001663:Bilirubin; D014453:Glucuronosyltransferase; D006446:Hemoglobin E; D009004:Monosaccharide Transport Proteins; D000099237:UDP-Galactose Translocators; C424032:UDP-glucuronosyltransferase isoenzyme 1.1