title: [Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].
abstract: Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.
authors: Børneafdelingen, Sygehus Sønderjylland, Sønderborg, Denmark.
authors: Line Brunemark
authors: LB
authors: Berg
authors: Nils Thorm
authors: NT
authors: Milman
authors: Lennart
authors: L
authors: Friis-Hansen
authors: Peter-Diedrich Mathias
authors: PD
authors: Jensen
authors: Torben
authors: T
authors: Fründ
mesh_terms: D002648:Child; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics*; D006432:Hemochromatosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000071020:Hemochromatosis Protein; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000235:genetics; D009154:Mutation; D018962:Phlebotomy; D016896:Treatment Outcome
chemical_list: D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein