Haemochromatosis

Paul C Adams; Gary Jeffrey; John Ryan

doi:10.1016/S0140-6736(23)00287-8

Haemochromatosis

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

Authors

Paul C Adams¹, Gary Jeffrey², John Ryan³

Affiliations

¹ Department of Medicine, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada. Electronic address: padams@uwo.ca.
² Medical School, University of Western Australia, Perth, WA, Australia.
³ Royal College of Surgeons of Ireland, Dublin, Ireland.

PMID: 37121243
DOI: 10.1016/S0140-6736(23)00287-8

Abstract

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