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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.

Original publication

DOI

10.3324/haematol.10701

Type

Journal article

Journal

Haematologica

Publication Date

03/2007

Volume

92

Pages

421 - 422

Keywords

Adult, Amino Acid Substitution, Child, Preschool, DNA Mutational Analysis, Early Diagnosis, Exons, Female, GPI-Linked Proteins, Genetic Testing, Genotype, Hemochromatosis, Hemochromatosis Protein, Histocompatibility Antigens Class I, Humans, Iron, Male, Membrane Proteins, Mutant Proteins, Mutation, Missense, Point Mutation, Polymorphism, Restriction Fragment Length, Protein Structure, Tertiary, Transferrin