Expression of HLA-Linked Hemochromatosis in Subjects Homozygous or Heterozygous for the C282Y Mutation
作者： Darrell H.G. Crawford , Elizabeth C. Jazwinska , Lara M. Cullen , Lawrie W. Powell
DOI: 10.1016/S0016-5085(98)70320-8
关键词:
摘要: Background & Aims: In the absence of a genetic test, diagnostic criteria for hereditary hemochromatosis have been imprecise. The identification HFE gene and C282Y mutation allow definition expression this disease reassessment criteria. aim study was to analyze concordance between diagnosis previous clinical in families with hemochromatosis. Methods: Three hundred subjects were tested grouped as homozygous, heterozygous, or homozygous normal. Results: All adults previously diagnosed heterozygous HLA-linked carried at least one mutation. Two adolescents, thought be had no Of 127 mutation, 105 met diagnosis. Iron overload not expressed 6.7% men 32.7% women. iron indices 8 171 within range regarded indicative homozygosity. Seven these H63D Conclusions: Australia, 17.3% do express meet current 4.8% homozygous. Nonexpression is common, particularly
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