title: Juvenile and adult hemochromatosis are distinct genetic disorders.
abstract: Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italia. camaschella@ope.net
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
authors.forename: A
authors.initials: A
authors.lastname: Roetto
authors.forename: M
authors.initials: M
authors.lastname: Cicilano
authors.forename: P
authors.initials: P
authors.lastname: Pasquero
authors.forename: S
authors.initials: S
authors.lastname: Bosio
authors.forename: L
authors.initials: L
authors.lastname: Gubetta
authors.forename: F
authors.initials: F
authors.lastname: Di Vito
authors.forename: D
authors.initials: D
authors.lastname: Girelli
authors.forename: A
authors.initials: A
authors.lastname: Totaro
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: A
authors.initials: A
authors.lastname: Grifa
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000473:pathology; D007558:Italy; D008126:Lod Score; D008297:Male; D010375:Pedigree