Iron metabolism and hereditary hemochromatosis: An update

C. Camaschella, A. Roetto

Research output: Contribution to journalArticlepeer-review

Abstract

Iron is essential for life but highly toxic to the cell when present in excess. This is well exemplified by Hereditary Hemochromatosis (HH), an autosomic recessive disorder which causes iron overload during adult life. The biochemical abnormality of the disease is still unknown, but likely due to a deregulation of intestinal iron absorption. The tight linkage of HH with HLA-A locates the gene on the short arm of chromosome 6. The study of molecular markers clos to HLA class I in HH families has narrowed the candidate region. All this DNA area is available cloned in YAC vectors and this will facilitate the discovery of the gene. The identification of the gene and of its molecular defects will be a major advance towards the screening of populations at risk and the understanding of physiologic mechanisms of iron metabolism.

Original languageEnglish
Pages (from-to)21-32
Number of pages12
JournalBulletin of Molecular Biology and Medicine
Volume19
Issue number1
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Biochemistry

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