Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age

Ann Clin Biochem 2006;43:233-236
doi:10.1258/000456306776865197
© 2006 Association for Clinical Biochemistry

 

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Case Reports


Enrico Rossi,
Daniel F Wallace,
V Nathan Subramaniam,
Timothy G St Pierre,
Catherine Mews and
Gary P Jeffrey


Department of Clinical Biochemistry, PathWest Nedlands, Western Australia, Australia;
Membrane Transport Laboratory, Cancer and Cell Biology Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia;
Membrane Transport Laboratory, Cancer and Cell Biology Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia;
School of Physics, University of Western Australia, Nedlands, Western Australia, Australia;
St John of God Medical Clinic, Murdoch, Western Australia, Australia;
Department of Gastroenterology and Hepatology, Sir Charles Gairdner Hospital Unit, School of Medicine and Pharmacology, University of Western Australia, Nedlands, Western Australia, Australia

A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 µg/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 µmol/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 andhaemojuvelin were sequenced and previously described mutationsin ferroportin 1 and transferrin receptor 2 genes were screened.Although no mutations were found, the most likely cause forthe early expression is the presence of novel mutations or gene(s).

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