Diagnosis and management of hereditary hemochromatosis

Clin Liver Dis. 2015 Feb;19(1):187-98. doi: 10.1016/j.cld.2014.09.011. Epub 2014 Oct 23.


Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis.

Keywords: Cirrhosis; Ferritin; Hemochromatosis; Iron saturation; Liver transplant.

Publication types

  • Review

MeSH terms

  • Cation Transport Proteins / genetics
  • Chelating Agents / therapeutic use
  • DNA Mutational Analysis
  • Family
  • Genetic Testing
  • Hemochromatosis / congenital
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Hemochromatosis / pathology
  • Hemochromatosis / therapy*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Phlebotomy
  • Receptors, Transferrin / genetics


  • Cation Transport Proteins
  • Chelating Agents
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Transferrin
  • TFR2 protein, human
  • metal transporting protein 1

Supplementary concepts

  • Hemochromatosis, type 2