Abstract
Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.
Publication types
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Case Reports
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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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Adult
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Biopsy
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Codon, Nonsense
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DNA Primers / chemistry
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Family Health
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Female
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GPI-Linked Proteins
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Hemochromatosis / diagnosis*
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Hemochromatosis / genetics*
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Hemochromatosis Protein
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Heterozygote
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Humans
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Iron / metabolism
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Liver / pathology
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Male
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Membrane Proteins / genetics*
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Middle Aged
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Mutation*
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Mutation, Missense
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Protein Structure, Tertiary
Substances
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Codon, Nonsense
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DNA Primers
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GPI-Linked Proteins
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HJV protein, human
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Hemochromatosis Protein
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Membrane Proteins
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Iron