[Genetic iron overload diseases: a deeply changing world]

Nephrol Ther. 2006 Nov:2 Suppl 5:S298-303.
[Article in French]

Abstract

Iron overload diseases are a quickly and deeply changing world, due to major advances in genetics and molecular biology. Five main entities are concerned: a frequent one, namely HFE-related or type1 haemochromatosis, and four rare or exceptional diseases which are types 2, 3 and 4 haemochromatosis and aceruloplasminemia. Increased duodenal iron absorption and enhanced macrophagic iron recycling, both due to hypo-hepcidinemia, account for the development of cellular excess in types 1, 2, 3 haemochromatosis whereas decreased cellular iron egress is the main explanation for type 4 haemochromatosis and aceruloplasminemia. Non-transferrin bound iron plays an important role in cellular iron excess and damage. Phlebotomies remain an essential therapeutic tool but the improved understanding of the intimate mechanisms underlying these diseases open the road for innovative therapeutic approaches.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Antimicrobial Cationic Peptides / deficiency
  • Antimicrobial Cationic Peptides / genetics
  • Ceruloplasmin / deficiency
  • Ferritins / blood
  • Gene Expression Regulation
  • Hemochromatosis / genetics
  • Hepcidins
  • Humans
  • Iron / metabolism*
  • Iron Overload / genetics*

Substances

  • Antimicrobial Cationic Peptides
  • Hepcidins
  • Ferritins
  • Iron
  • Ceruloplasmin