Article
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome.
British journal of haematology - 1 Nov 1997
Galanello R, Perseu L, Melis M A, Cipollina L, Barella S, Giagu N, Turco M P, Maccioni O, Cao A
Abstract excerpt
The reasons why heterozygotes for beta-thalassaemia have considerable variation in serum bilirubin levels are unknown. High levels of bilirubin could be related to the co-inherited Gilbert's syndrome, determined either by mutations of the coding region or by variation in the A(TA)nTAA motif of the promoter of the bilirubin UDP-glucuronosyltransferase gene (UGT-1). We sequenced the coding and the promoter region...
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