Lancet. 2023 May 27;401(10390):1811-1821. doi: 10.1016/S0140-6736(23)00287-8. Epub 2023 Apr 27.


Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death. This Seminar includes an update on the origins of haemochromatosis; and an overview pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.

Publication types

  • Review

MeSH terms

  • Genetic Testing
  • Hemochromatosis* / diagnosis
  • Hemochromatosis* / genetics
  • Hemochromatosis* / therapy
  • Humans
  • Iron Overload* / diagnosis
  • Iron Overload* / etiology
  • Iron Overload* / therapy
  • Liver Cirrhosis / complications
  • Phlebotomy / adverse effects