Haemochromatosis: pathological or beneficial.
Genetic haemochromatosis (GH) is one of the most common autosomal recessive disorders in northern Europe. The majority of patients (approaching 90%) are homozygous for a single mutation (C282Y) of the HFE gene. The significance of a second mutation (H63D) in causing iron accumulation is not yet clear. The studies which led to the identification of the HFE gene are described along with recent work on mutation frequencies in various populations and functional studies of the HFE protein. Genetic testing and measurement of transferrin saturation provide the means to carry out widespread testing for the prevention of iron overload and its clinical consequences. The reason why the mutation has spread throughout Europe is not yet known and questions remain about the clinical penetrance of GH.
Worwood
M
M
Department of Haematology, University of Wales College of Medicine, Cardiff. Worwood@Cardiff.ac.uk
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D005808:Genes, Recessive / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics; D015234:HLA-A Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics; D011379:Prognosis
C103673:HFE protein, human; D006680:HLA Antigens; D015234:HLA-A Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins