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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Abstract:
During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The possibility of detecting juvenile hemochromatosis before the onset of clinical manifestations raises questions about the management of such young children in order to prevent iron overload.
Publication status:
Published

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Publisher copy:
10.3324/haematol.10701

Authors


Aguilar-Martinez, P More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine
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Journal:
Haematologica
Volume:
92
Issue:
3
Pages:
421-422
Publication date:
2007-03-05
DOI:
EISSN:
1592-8721
ISSN:
0390-6078
URN:
uuid:a11b359d-528e-4f7d-bb3a-cbd5a3cac2a4
Source identifiers:
456214
Local pid:
pubs:456214

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