Inherited HFE-unrelated hemochromatosis in Italian families

Clara Camaschella, Silvia Fargion, Maurizio Sampietro, Antonella Roetto, Sandra Bosio, Giovanni Garozzo, Cristina Arosio, Alberto Piperno

Research output: Contribution to journalArticle

Abstract

Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. A minority of iron loaded patients have no mutations in this gene. An infrequent subset shows an early-onset aggressive disorder, denoted juvenile hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene. In two families the disorder is unlinked to 6p; in one family some features of the juvenile form are seen, but linkage to 6p is not excluded. Our results point to genetic forms of hemochromatosis not associated with HFE and raise the problem of whether non-HFE hemochromatosis in Italy is related to the 'juvenile' form. They also emphasize the importance of phenotypic as well as genetic diagnosis of HH.

Original languageEnglish
Pages (from-to)1563-1564
Number of pages2
JournalHepatology
Volume29
Issue number5
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Hepatology

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    Camaschella, C., Fargion, S., Sampietro, M., Roetto, A., Bosio, S., Garozzo, G., Arosio, C., & Piperno, A. (1999). Inherited HFE-unrelated hemochromatosis in Italian families. Hepatology, 29(5), 1563-1564. https://doi.org/10.1002/hep.510290509