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.

@article{Sampietro1997TheEO,
  title={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.},
  author={Marco Sampietro and Loredana Lupica and L. Perrero and Ana Paula Comino and Franco Martinez di Montemuros and Maria Domenica Cappellini and Gemino Fiorelli},
  journal={British journal of haematology},
  year={1997},
  volume={99 2},
  pages={
          437-9
        }
}
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… CONTINUE READING
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