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

E. Rossi, D.F. Wallace, V.N. Subramaniam, Tim St Pierre, C. Mews, Gary Jeffrey

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 mu g/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 mu mol/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).
Original languageEnglish
Pages (from-to)233-236
JournalAnnals of Clinical Biochemistry
Volume43
Issue number3
DOIs
Publication statusPublished - 2006

Fingerprint

Hemochromatosis
Genes
Liver
Mutation
Iron
Hepcidins
Gene encoding
Transferrin Receptors
Magnetic resonance
Ferritins
Lethargy
Screening
Imaging techniques
Reference Values
DNA
Genotype
Magnetic Resonance Imaging
Weights and Measures
Serum

Cite this

Rossi, E. ; Wallace, D.F. ; Subramaniam, V.N. ; St Pierre, Tim ; Mews, C. ; Jeffrey, Gary. / Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age. In: Annals of Clinical Biochemistry. 2006 ; Vol. 43, No. 3. pp. 233-236.
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Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age. / Rossi, E.; Wallace, D.F.; Subramaniam, V.N.; St Pierre, Tim; Mews, C.; Jeffrey, Gary.

In: Annals of Clinical Biochemistry, Vol. 43, No. 3, 2006, p. 233-236.

Research output: Contribution to journalReview article

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T1 - Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age

AU - Rossi, E.

AU - Wallace, D.F.

AU - Subramaniam, V.N.

AU - St Pierre, Tim

AU - Mews, C.

AU - Jeffrey, Gary

PY - 2006

Y1 - 2006

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AB - A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 mu g/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 mu mol/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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DO - 10.1258/000456306776865197

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