• Lancet · May 2023

    Review

    Haemochromatosis.

    • Paul C Adams, Gary Jeffrey, and John Ryan.
    • Department of Medicine, Schulich School of Medicine Dentistry, Western University, London, ON, Canada. Electronic address: padams@uwo.ca.
    • Lancet. 2023 May 27; 401 (10390): 181118211811-1821.

    AbstractHaemochromatosis 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.Copyright © 2023 Elsevier Ltd. All rights reserved.

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