Abstract
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Aged
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Aged, 80 and over
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Antimicrobial Cationic Peptides / metabolism
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Australia
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Family Health
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Female
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GPI-Linked Proteins
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Hemochromatosis / metabolism*
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Hemochromatosis Protein
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Hepcidins
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Humans
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Iron Overload*
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Male
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Membrane Proteins / metabolism*
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Middle Aged
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Mutation*
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Pedigree
Substances
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Antimicrobial Cationic Peptides
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GPI-Linked Proteins
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HAMP protein, human
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HJV protein, human
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Hemochromatosis Protein
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Hepcidins
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Membrane Proteins