Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians

The Gly71Arg mutation of the hepatic bilirubin UDP glucuronosyltransferase (B-UGT) gene associated with Gilbert syndrome prevails among Japanese and i ts gene frequency is 0.13. Among 20 patients with acute leukaemia, 4 patien ts showed intermittent unconjugated hyperbilirubinaemia during the course o f combined chemotherapy. The Gly71Arg mutation was detected in all 4 patien ts with hyperbilirubinaemia, but was not found in 16 patients without hyper bilirubinaemia. Two of them were heterozygotes and one was a homozygote for the Gly71Arg mutation, and the other was a compound heterozygote of the Gl y71Arg mutation and TA insertion mutation in the TATA box of the B-UGT gene . In addition to the complications leading to hyperbilirubinaemia, includin g liver damage due to drugs, viral infections or tumour cell infiltrations and alloimmune haemolysis, carrier status for the Gly71Arg mutation should be considered in a patient with leukaemia showing intermittent hyperbilirub inaemia during the course of chemotherapy, especially among Japanese, Korea ns and Chinese owing to its prevalence in those populations.