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J Med Genet 2004;41:721-730 doi:10.1136/jmg.2004.020644
  • Review

Recent advances in understanding haemochromatosis: a transition state

  1. K J H Robson1,
  2. A T Merryweather-Clarke1,
  3. E Cadet2,
  4. V Viprakasit1,3,
  5. M G Zaahl4,
  6. J J Pointon5,
  7. D J Weatherall1,
  8. J Rochette2
  1. 1MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK
  2. 2Génétique Médicale-CHU, Faculté de Médecine, Université de Picardie Jules Verne, UMR-INERIS, Amiens, France
  3. 3Department of Paediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
  4. 4Department of Genetics, University of Stellenbosch, Stellenbosch, South Africa
  5. 5Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Windmill Road, Headington, Oxford, OX3 7LD, UK
  1. Correspondence to:
 Kathryn J H Robson
 MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK; kathryn.robsonimm.ox.ac.uk
 Correspondence to:
 Alison T Merryweather-Clarke
 MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Oxford, OX3 9DS, UK; alison.hammerimm.ox.ac.uk
  • Received 18 May 2004
  • Accepted 20 May 2004

Abstract

Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in the HFE and HJV genes. Digenic inheritance of mutations in HFE and HAMP can result in either JH or hereditary haemochromatosis (HH) depending upon the severity of the mutation in HAMP. Here we review these findings and discuss how understanding the different types of haemochromatosis and our increasing knowledge of iron metabolism may help to elucidate the host’s response to infection.

Footnotes

  • Work in the laboratories of KJHR and JR has been supported by EC contract QLRT-1999-02237.

  • Conflict of interest: none declared.

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