title: Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report.
abstract: While classical hereditary haemochromatosis, usually associated with mutations in the HFE gene, has an adult age onset and a long, progressive evolution, juvenile haemochromatosis, most often associated with mutations in the HJV gene, is a more severe, rapidly progressive condition and has an onset before the age of 30. We report a 26-year old woman with a severe iron overload, affected by hypogonadotropic hypogonadism and moderate dilative cardiomyopathy, in whom the molecular analysis revealed a homozygous genotype for G320V mutation in the HJV gene. As juvenile haemochromatosis is a severe disease, death usually occurring from cardiac involvement, an efficient iron removal from the body strategy should be started as soon as possible, in order to prevent irreversible damage.
authors.affiliation: Department of Medical Genetics, Iuliu Hatieganu University of Medicine and Pharmacy, 6 Pasteur Str., Cluj-Napoca, Romania.
authors.forename: Mariela S
authors.initials: MS
authors.lastname: Militaru
authors.forename: Radu A
authors.initials: RA
authors.lastname: Popp
authors.forename: Adrian P
authors.initials: AP
authors.lastname: Trifa
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron