title: 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.
authors.forename: Patricia
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: Chun Yu
authors.initials: CY
authors.lastname: Lok
authors.forename: Séverine
authors.initials: S
authors.lastname: Cunat
authors.forename: Estelle
authors.initials: E
authors.lastname: Cadet
authors.forename: Kathryn
authors.initials: K
authors.lastname: Robson
authors.forename: Jacques
authors.initials: J
authors.lastname: Rochette
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005091:Exons / Q000235:genetics; D005260:Female; D058851:GPI-Linked Proteins; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017434:Protein Structure, Tertiary; D014168:Transferrin / Q000032:analysis
chemical_list: D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D050505:Mutant Proteins; D014168:Transferrin; D007501:Iron