Results 51 to 60 of about 198,942 (291)
Hereditary hemochromatosis promotes colitis and colon cancer and causes bacterial dysbiosis in mice
Biochemical Journal, 2020 Hereditary hemochromatosis (HH), an iron-overload disease, is a prevalent genetic disorder. As excess iron causes a multitude of metabolic disturbances, we postulated that iron overload in HH disrupts colonic homeostasis and colon–microbiome interaction ...
Sathish Sivaprakasam +8 more
semanticscholar +1 more source
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
doaj +1 more source
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
Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload [PDF]
, 2011 Iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-loading anemias such as β-thalassemia. Treatment can be burdensome and have significant side effects, and new therapeutic options are needed.
Alan Waring +16 more
core +2 more sources
Neutrophils from hereditary hemochromatosis patients are protected from iron excess and are primed.
Blood Advances, 2020 Iron is required for the oxidative response of neutrophils to allow the production of reactive oxygen species (ROS). However, neutrophil function may be severely altered in conditions of iron overload, as observed in chronically transfused patients ...
Cyril Renassia +13 more
semanticscholar +1 more source
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
doaj +1 more source
Bull's eye maculopathy associated with hereditary hemochromatosis
American Journal of Ophthalmology Case Reports, 2020 Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the HFE gene.
Kellyn N. Bellsmith +6 more
doaj +1 more source
Brazilian family with hyperferritinemia-cataract syndrome: case report
Einstein (São Paulo), 2022 Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome
Aline Morgan Alvarenga +4 more
doaj +1 more source
ACG Clinical Guideline: Hereditary Hemochromatosis
American Journal of Gastroenterology, 2019 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, management, and treatment of HH.
Kris V. Kowdley +3 more
semanticscholar +1 more source
Egyptian Journal of Medical Human Genetics, 2018 Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik +4 more
doaj +1 more source