| Abstract | The article aims to detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload at four public hospitals, Hong Kong. The participants include fifty Chinese patients who presented from January 1987 through December 1999 with hepatic iron overload from various causes. 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 percent. Of the three H63D-heterozygotes, one had (B)-thalassaemia major, one had (B)-thalassaemia minor, and one had hereditary spherocytosis. None of the 12 patients who were presumed to have primary haemochromatosis were positive for either mutation. The classical form of human leukocyte antigen-linked hereditary haemochromatosis appears to be absent from this locality. The H63D mutation is found in a minority (9.8 percent) of the patients, in whom it may act synergistically with an erythropoietic factor. |
|---|
