Haemochromatosis

P Brissot, A Pietrangelo, PC Adams… - Nature reviews Disease …, 2018 - nature.com
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a
reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in …

ACG clinical guideline: hereditary hemochromatosis

KV Kowdley, KE Brown, J Ahn… - Official journal of the …, 2019 - journals.lww.com
Hereditary hemochromatosis (HH) is one of the most common genetic disorders among
persons of northern European descent. There have been recent advances in the diagnosis …

Hemochromatosis

JK Olynyk, GA Ramm - New England Journal of Medicine, 2022 - Mass Medical Soc
Hemochromatosis | New England Journal of Medicine Skip to main content The New England
Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical …

[HTML][HTML] Inherited iron overload disorders

A Piperno, S Pelucchi, R Mariani - Translational gastroenterology …, 2020 - ncbi.nlm.nih.gov
Hereditary iron overload includes several disorders characterized by iron accumulation in
tissues, organs, or even single cells or subcellular compartments. They are determined by …

The iron overload syndromes

A Siddique, KV Kowdley - Alimentary pharmacology & …, 2012 - Wiley Online Library
Background Iron overload syndromes encompass a wide range of hereditary and acquired
conditions. Major developments in the field of genetics and the discovery of hepcidin as a …

Iron-induced liver injury: a critical reappraisal

SA Bloomer, KE Brown - International journal of molecular sciences, 2019 - mdpi.com
Iron is implicated in the pathogenesis of a number of human liver diseases. Hereditary
hemochromatosis is the classical example of a liver disease caused by iron, but iron is …

Iron metabolism and atherosclerosis

Q Guo, C Qian, ZM Qian - Trends in Endocrinology & Metabolism, 2023 - cell.com
Despite several decades of study, whether iron is involved in the development of
atherosclerosis remains a controversial and unresolved issue. Here, we focus on the up-to …

[HTML][HTML] Revisiting hemochromatosis: genetic vs. phenotypic manifestations

GJ Anderson, E Bardou-Jacquet - Annals of translational medicine, 2021 - ncbi.nlm.nih.gov
Iron overload disorders represent an important class of human diseases. Of the primary iron
overload conditions, by far the most common and best studied is HFE-related …

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

G Porto, P Brissot, DW Swinkels, H Zoller… - European Journal of …, 2016 - nature.com
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference
test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority …

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

SD Grosse, LC Gurrin, NA Bertalli, KJ Allen - Genetics in Medicine, 2018 - nature.com
Iron overload (hemochromatosis) can cause serious, symptomatic disease that is
preventable if detected early and managed appropriately. The leading cause of …