Non-HFE haemochromatosis

World J Gastroenterol. 2007 Sep 21;13(35):4690-8. doi: 10.3748/wjg.v13.i35.4690.


Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene. The four main types of non-HFE HH are caused by mutations in the hemojuvelin, hepcidin, transferrin receptor 2 and ferroportin genes. Juvenile haemochromatosis is an autosomal recessive disorder and can be caused by mutations in either hemojuvelin or hepcidin. An adult onset form of HH similar to HFE-HH is caused by homozygosity for mutations in transferrin receptor 2. The autosomal dominant iron overload disorder ferroportin disease is caused by mutations in the iron exporter ferroportin. The clinical characteristics and molecular basis of the various types of non-HFE haemochromatosis are reviewed. The study of these disorders and the molecules involved has been invaluable in improving our understanding of the mechanisms involved in the regulation of iron metabolism.

Publication types

  • Review

MeSH terms

  • Antimicrobial Cationic Peptides / genetics
  • Cation Transport Proteins / genetics
  • GPI-Linked Proteins
  • Hemochromatosis / genetics*
  • Hemochromatosis / metabolism
  • Hemochromatosis Protein
  • Hepcidins
  • Humans
  • Iron / metabolism
  • Membrane Proteins / genetics
  • Mutation / genetics*
  • Receptors, Transferrin / genetics


  • Antimicrobial Cationic Peptides
  • Cation Transport Proteins
  • GPI-Linked Proteins
  • HAMP protein, human
  • HJV protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • Membrane Proteins
  • Receptors, Transferrin
  • TFR2 protein, human
  • metal transporting protein 1
  • Iron