Haemochromatosis

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 serio...

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Bibliographic Details
Published in:The Lancet (British edition) 2023-05, Vol.401 (10390), p.1811-1821
Main Authors: Adams, Paul C, Jeffrey, Gary, Ryan, John
Format: Article
Language:English
Subjects:
Biobanks
Bronze Age
Cirrhosis
Genes
Genetic disorders
Genetic screening
Genetic Testing
Genetics
Genomes
Genotype & phenotype
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Hemochromatosis - therapy
Hepatitis
Homeostasis
Humans
Influence
Iron
Iron Overload - diagnosis
Iron Overload - etiology
Iron Overload - therapy
Liver cancer
Liver cirrhosis
Liver Cirrhosis - complications
Liver diseases
Medical treatment
Mutation
Pathogenesis
Pathophysiology
Phlebotomy - adverse effects
Proteins
Signs and symptoms
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Summary: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.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(23)00287-8