Clinical expression of C282Y homozygous HFE haemochromatosis at 14
years of age.
Rossi E, Wallace DF, Subramaniam VN, St Pierre TG, Mews C, Jeffrey GP
Ann Clin Biochem. 2006 May ; 43(Pt 3): 233-6

A 14-year-old boy who presented with debilitating lethargy was shown to
have an elevated serum ferritin of 572 mug/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 mumol/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).

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