title: Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene.
abstract: Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.
authors.affiliation: Department of Medicine, Faculty of Pharmaceutical Sciences of Hokuriku University, Kanazawa 920-1181, Japan.
authors.forename: Chizu
authors.initials: C
authors.lastname: Koyama
authors.forename: Hisao
authors.initials: H
authors.lastname: Hayashi
authors.forename: Shinya
authors.initials: S
authors.lastname: Wakusawa
authors.forename: Toshio
authors.initials: T
authors.lastname: Ueno
authors.forename: Motoyoshi
authors.initials: M
authors.lastname: Yano
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Katano
authors.forename: Hidemi
authors.initials: H
authors.lastname: Goto
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Kidokoro
mesh_terms: D017668:Age of Onset; D017809:Fatal Outcome; D005260:Female; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000235:genetics* / Q000628:therapy; D000071020:Hemochromatosis Protein; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016896:Treatment Outcome
chemical_list: D058851:GPI-Linked Proteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D008565:Membrane Proteins