title: Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age.
abstract: A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 microg/L and a C282Y homozygous HFE genotype. Liver iron concentration was measured non-invasively by magnetic resonance imaging, which revealed a liver iron concentration of 59 micromol/g dry weight (children's reference range < 14). The early phenotypic expression was further investigated by screening genomic DNA for the presence of co-inherited mutations in genes responsible for non-HFE haemochromatosis. Coding regions and splice sites in genes encoding hepcidin and haemojuvelin were sequenced and previously described mutations in ferroportin 1 and transferrin receptor 2 genes were screened. Although no mutations were found, the most likely cause for the early expression is the presence of novel mutations or gene(s).
authors.affiliation: Department of Clinical Biochemistry, PathWest Nedlands, Western Australia, Australia. ric.rossi@health.wa.gov.au
authors.forename: Enrico
authors.initials: E
authors.lastname: Rossi
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Wallace
authors.forename: V Nathan
authors.initials: VN
authors.lastname: Subramaniam
authors.forename: Timothy G
authors.initials: TG
authors.lastname: St Pierre
authors.forename: Catherine
authors.initials: C
authors.lastname: Mews
authors.forename: Gary P
authors.initials: GP
authors.lastname: Jeffrey
mesh_terms: D000328:Adult; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D014168:Transferrin / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D007501:Iron