Clinical expression of C282Y hornozygous HFE haernochromatosis at 14 years of age

Rossi, Enrico, Wallace, Daniel F., Subramaniam, V. Nathan, St Pierre, Timothy G., Mews, Catherine and Jeffrey, Gary P. (2006) Clinical expression of C282Y hornozygous HFE haernochromatosis at 14 years of age. Annals of Clinical Biochemistry, 43 3: 233-236. doi:10.1258/000456306776865197


Author Rossi, Enrico
Wallace, Daniel F.
Subramaniam, V. Nathan
St Pierre, Timothy G.
Mews, Catherine
Jeffrey, Gary P.
Title Clinical expression of C282Y hornozygous HFE haernochromatosis at 14 years of age
Formatted title
Clinical expression of C282Y hornozygous HFE haernochromatosis at 14 years of age
Journal name Annals of Clinical Biochemistry   Check publisher's open access policy
ISSN 0004-5632
1758-1001
Publication date 2006-05
Sub-type Article (original research)
DOI 10.1258/000456306776865197
Volume 43
Issue 3
Start page 233
End page 236
Total pages 4
Place of publication London, United Kingdom
Publisher Royal Society of Medicine Press
Language eng
Abstract 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 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).
Keyword JUVENILE HEMOCHROMATOSIS
IRON OVERLOAD
MUTATION
GENE
MODIFIER
HAMP
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Thu, 25 Nov 2010, 10:30:56 EST