Physiology of iron metabolism

S Waldvogel-Abramowski, G Waeber… - Transfusion Medicine …, 2014 - karger.com
A revolution occurred during the last decade in the comprehension of the physiology as well
as in the physiopathology of iron metabolism. The purpose of this review is to summarize the …

HFE gene: Structure, function, mutations, and associated iron abnormalities

JC Barton, CQ Edwards, RT Acton - Gene, 2015 - Elsevier
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …

Hemochromatosis classification: update and recommendations by the BIOIRON Society

D Girelli, F Busti, P Brissot, I Cabantchik… - Blood, The Journal …, 2022 - ashpublications.org
Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled
intestinal iron absorption may lead to progressive iron overload (IO) responsible for …

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 …

[HTML][HTML] Ethnic differences in iron status

W Kang, A Barad, AG Clark, Y Wang, X Lin, Z Gu… - Advances in …, 2021 - Elsevier
Iron is unique among all minerals in that humans have no regulatable excretory pathway to
eliminate excess iron after it is absorbed. Iron deficiency anemia occurs when absorbed iron …

Molecular diagnostic and pathogenesis of hereditary hemochromatosis

PCJL Santos, JE Krieger, AC Pereira - International journal of molecular …, 2012 - mdpi.com
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by
enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron …

Non-HFE hepatic iron overload

A Pietrangelo, A Caleffi, E Corradini - Seminars in liver disease, 2011 - thieme-connect.com
Numerous clinical entities have now been identified to cause pathologic iron accumulation
in the liver. Some are well described and have a verified hereditary basis; in others the …

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

K Sandhu, K Flintoff, MD Chatfield… - Blood, The Journal …, 2018 - ashpublications.org
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its
phenotypic variability has been well studied. Less is known about the natural history of non …

Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features

M Heidari, DM Johnstone, B Bassett, RM Graham… - Molecular …, 2016 - nature.com
The 'neurodegeneration with brain iron accumulation'(NBIA) disease family entails
movement or cognitive impairment, often with psychiatric features. To understand how iron …

Iron storage disease in Asia‐Pacific populations: The importance of non‐HFE mutations

CJ McDonald, DF Wallace… - Journal of …, 2013 - Wiley Online Library
Hereditary hemochromatosis (HH) is a widely recognized and well‐studied condition in E
uropean populations. This is largely due to the high prevalence of the C 282 Y mutation of …