Premium
The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β‐thalassaemia and in glucose‐6‐phosphate dehydrogenase deficiency
Author(s) -
Sampietro Maurizio,
Lupica Loredana,
Perrero Luca,
Comino Alessia,
Martinez di Montemuros Franco,
Cappellini Maria Domenica,
Fiorelli Gemino
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.4113228.x
Subject(s) - bilirubin , glucuronosyltransferase , medicine , endocrinology , uridine diphosphate , gilbert's syndrome , uridine , dehydrogenase , biology , gene , biochemistry , enzyme , rna , microsome
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 β‐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 β‐thalassaemia and G6PD deficiency.