The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency.
We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the bilirubin levels of subjects with inherited haematological disorders which cause increased bilirubin production. 57 patients heterozygous for beta-thalassaemia, 21 with G6PD deficiency and 44 controls were examined by typing the TATA-box in the promoter of the gene uridine diphosphate glucuronosyltransferase 1A. Nearly 80% of patients with increased bilirubin levels were heterozygous or homozygous for the UGT1A TA(7) variant associated with Gilbert's syndrome. These findings indicate that Gilbert's syndrome accounts for a large proportion of the variability of bilirubin levels in beta-thalassaemia and G6PD deficiency.
Sampietro
M
M
Istituto di Medicina Interna e Fisiopatologia Medica, Università di Milano, IRCCS Ospedale Maggiore Policlinico, Italy.
Lupica
L
L
Perrero
L
L
Comino
A
A
Martinez di Montemuros
F
F
Cappellini
M D
MD
Fiorelli
G
G
D015870:Gene Expression; D005878:Gilbert Disease / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D014453:Glucuronosyltransferase