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 …
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 …
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 …
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 …
conditions. Major developments in the field of genetics and the discovery of hepcidin as a …
[HTML][HTML] Ethnic differences in iron status
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 …
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 …
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 …
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 …
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 …
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 …
uropean populations. This is largely due to the high prevalence of the C 282 Y mutation of …