Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
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.
Aguilar-Martinez
Patricia
P
Lok
Chun Yu
CY
Cunat
Séverine
S
Cadet
Estelle
E
Robson
Kathryn
K
Rochette
Jacques
J
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
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