HFE hemochromatosis: an overview about therapeutic recommendations
Hematology, Transfusion and Cell Therapy, 2022 Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the ...
Rodolfo D. Cancado +2 more
doaj
Revista Brasileira de Hematologia e Hemoterapia, 2012 Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis.
Paulo Caleb Júnior de Lima Santos +5 more
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Q-Net: A Quantitative Susceptibility Mapping-based Deep Neural Network for Differential Diagnosis of Brain Iron Deposition in Hemochromatosis [PDF]
arXiv, 2021 Brain iron deposition, in particular deep gray matter nuclei, increases with advancing age. Hereditary Hemochromatosis (HH) is the most common inherited disorder of systemic iron excess in Europeans and recent studies claimed high brain iron accumulation in patient with Hemochromatosis.
arxiv
Comparison of the Interactions of Transferrin Receptor and Transferrin Receptor 2 with Transferrin and the Hereditary Hemochromatosis Protein HFE [PDF]
, 2000 The transferrin receptor (TfR) interacts with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis.
Andrews, Nancy C. +5 more
core +1 more source
Hepcidin secretion was not directly proportional to intracellular iron-loading in recombinant-TfR1 HepG2 cells: short communication [PDF]
, 2020 Hepcidin is the master regulator of systemic iron homeostasis and its dysregulation is observed in several chronic liver diseases. Unlike the extracellular iron-sensing mechanisms, the intracellular iron-sensing mechanisms in the hepatocytes that lead to
Busbridge Mark +7 more
core +2 more sources
Prognostic Factors and Survival in Patients with Hereditary Hemochromatosis and Cirrhosis
Canadian Journal of Gastroenterology, 2006 OBJECTIVES: The survival of treated, noncirrhotic patients with hereditary hemochromatosis is similar to that of the general population. Less is known about the outcome of cirrhotic hereditary hemochromatosis patients.
Melanie D Beaton, Paul C Adams
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Complete heart block with ventricular tachycardia in a patient with hemochromatosis
Saudi Journal of Medicine and Medical Sciences, 2014 Hereditary hemochromatosis is an inherited condition of dysregulated iron absorption, and usually presents with clinical features of hepatic dysfunction. Cardiac involvement as the presenting manifestation of hereditary hemochromatosis is rare. We report
Sajeer Kalathingathodika +3 more
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Ironing out the details: Untangling dietary iron and genetic background in diabetes [PDF]
, 2018 The search for genetic risk factors in type-II diabetes has been hindered by a failure to consider dietary variables. Dietary nutrients impact metabolic disease risk and severity and are essential to maintaining metabolic health.
Lawson, Heather A, Miranda, Mario A
core +2 more sources
Analysis of Human Spleen Contamination [PDF]
, 2007 Besides carbon, oxygen and nitrogen, numerous other elements and their compounds are significant in the body of humans and other animals. Accumulation of some elements and their compounds is recognized by clinical and biochemical evaluation. The physical-
Jan Jakubovsky +2 more
core +2 more sources
Frontiers in Medicine, 2021 Hereditary hemochromatosis is a genetic iron overload disease related to a mutation within the HFE gene that controls the expression of hepcidin, the master regulator of systemic iron metabolism. The natural stable iron isotope composition in whole blood
Emmanuelle Albalat +5 more
doaj +1 more source