OBJECTIVE. To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload. DESIGN. Multicentre retrospective study.

SETTING. Four public hospitals, Hong Kong.

PARTICIPANTS. Fifty Chinese patients who presented from January 1987 through December 1999 with hepatic iron overload from various causes.

MAIN OUTCOME MEASURES. The DNA from liver biopsy samples was tested for HFE mutations by restriction fragment length polymorphism analysis.

RESULTS. The sample DNA quality was unsatisfactory for analysis of the C282Y mutation in one case and the H63D mutation in nine cases. The C282Y mutation was not detected in any of the 49 satisfactory samples. Three of the 41 samples were heterozygous for the H63D mutation and only one was homozygous, giving an allele frequency of 6.1%. Of the three H63D-heterozygotes, one had beta-thalassaemia major, one had beta-thalassaemia minor, and one had hereditary spherocytosis. None of the 12 patients who were presumed to have primary haemochromatosis were positive for either mutation.

CONCLUSIONS. The classical form of human leukocyte antigen-linked hereditary haemochromatosis appears to be absent form this locality. The H63D mutation is found in a minority (9.8%) of the patients, in whom it may act synergistically with an erythropoietic factor.

Key words: Genes, MHC class I; Hemochromatosis/genetics; Hong Kong; Iron overload/genetics; Mutation, missense

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