Juvenile and adult hemochromatosis are distinct genetic disorders

C. Camaschella, A. Roetto, M. Cicilano, P. Pasquero, S. Bosio, L. Gubetta, F. Di Vito, D. Girelli, A. Totaro, M. Carella, A. Grifa, P. Gasparini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)371-375
Number of pages5
JournalEuropean Journal of Human Genetics
Volume5
Issue number6
Publication statusPublished - Nov 1997

Keywords

  • Hemochromatosis, juvenile
  • HFE gene
  • Iron overload
  • Microsatellites

ASJC Scopus subject areas

  • Genetics(clinical)

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    Camaschella, C., Roetto, A., Cicilano, M., Pasquero, P., Bosio, S., Gubetta, L., Di Vito, F., Girelli, D., Totaro, A., Carella, M., Grifa, A., & Gasparini, P. (1997). Juvenile and adult hemochromatosis are distinct genetic disorders. European Journal of Human Genetics, 5(6), 371-375.