Rationale and Comments

The majority of hereditary hemochromatosis is due to inheritance of hemochromatosis gene mutations. Hemochromatosis gene mutations are common among individuals of European ancestry; however, only a small proportion of individuals with these mutations develop clinical disease. Other genetic and nongenetic factors contribute to disease expression. Hemochromatosis genotyping should only be performed among individuals with iron overload (e.g., elevated fasting transferrin saturation >45%) or a known family history of hemochromatosis-associated hereditary hemochromatosis.

Sponsoring Organizations

• American College of Medical Genetics and Genomics

Sources

• American Association for the Study of Liver Diseases guideline

Disciplines

• Genetic
• Hematologic

References

• Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol. 2001 Aug 1;154(3):193-206.
  
• King C, Barton DE. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis. BMC Med Genet. 2006 Nov 29;7:81.
  
• Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-43.
  
• European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010 Jul;53(1):3-22.