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Curriculum based clinical reviews
The clinical management of hereditary haemochromatosis
  1. Marinos Pericleous1,2,
  2. Claire Kelly1,2
  1. 1Department of Gastroenterology & Hepatology, Royal Surrey County Hospital NHS Foundation Trust, Guildford, Surrey, UK
  2. 2Department of clinical & experimental medicine, University of Surrey, Guildford, Surrey, UK
  1. Correspondence to Dr Marinos Pericleous, Department of Gastroenterology and Hepatology, Royal Surrey County Hospital, Guildford, Surrey GU2 7XX, UK; pericleousmarinos{at}gmail.com

Abstract

Hereditary haemochromatosis is an autosomal recessive disorder with variable penetrance. Most patients are C282Y homozygotes while heterozygotes or patients who are homozygous with other mutations are uncommonly affected. The true genotype to phenotype expression remains unclear. Treatment with phlebotomy is highly effective and cost-efficient while liver transplantation confers a curative option.

  • iron metabolism
  • haemochromatosis
  • iron overload

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Footnotes

  • Contributors MP: Involved in the conceptualisation of the work and designed the manuscript. He has carried out the literature review. He has drafted the work and revised it critically for important intellectual content. He has provided final approval of the version to be published and herby agrees to be accountable for the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.CK:MP: Involved in the conceptualisation of the work and designed the manuscript. She has carried out the literature review. She has drafted the work and revised it critically for important intellectual content. She has provided final approval of the version to be published and herby agrees to be accountable for the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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