Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

Journal Article (Journal Article;Review)

The spectrum of known disorders of iron metabolism has expanded dramatically over the past few years. Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload. There are clearly several other, unidentified, iron overload disease genes yet to be found. In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system. Finally, as the number of known iron metabolic genes increases and their respective functions are ascertained, new opportunities have arisen to identify genetic modifiers of iron homeostasis.

Full Text

Duke Authors

Cited Authors

  • Roy, CN; Andrews, NC

Published Date

  • October 1, 2001

Published In

Volume / Issue

  • 10 / 20

Start / End Page

  • 2181 - 2186

PubMed ID

  • 11673399

International Standard Serial Number (ISSN)

  • 0964-6906

Digital Object Identifier (DOI)

  • 10.1093/hmg/10.20.2181


  • eng

Conference Location

  • England