Results 21 to 30 of about 113,339 (205)
Biochemical, Biophysical, and Cellular Investigations of the Interactions of Transferrin Receptor with Transferrin and the Hereditary Hemochromatosis Protein, HFE [PDF]
, 2004 Hereditary hemochromatosis (HH) is a prevalent genetic disorder that results in the daily excess absorption of dietary iron. If untreated this disease leads to systemic organ failure and death. HH is caused by mutations to the gene coding for a protein
Giannetti, Anthony Michael
core +1 more source
Hematology, 2005 Hereditary hemochromatosis (HH) is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease.
Massimo, Franchini, Dino, Veneri
openaire +5 more sources
Arthritis in hereditary hemochromatosis [PDF]
Arthritis & Rheumatism, 1987 AbstractSeven pedigrees with 45 members were evaluated for arthropathy associated with hereditary hemochromatosis (HC). Patients with symptomatic extraarticular disease were compared with asymptomatic patients who had evidence of HC on laboratory findings, and with normal subjects.
J L, Mathews, H J, Williams
openaire +2 more sources
Hypogonadism in Hereditary Hemochromatosis [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2005 Abstract Hypogonadism, usually hypogonadotropic in origin, is the most common nondiabetic endocrinopathy in hereditary hemochromatosis (HH). Early studies, usually evaluating small numbers of patients with advanced HH, report prevalence rates of 10–100%. The clinical presentation of HH has changed in recent years as a result of increased
J H, McDermott, C H, Walsh
openaire +2 more sources
Frontiers in Pediatrics, 2022 In a newborn with very precocious liver failure, cholestatic jaundice, and low γ-glutamyl transpeptidase, progressive hepatosplenomegaly induced a progressively worsening respiratory distress, that was successfully treated with steroids.
Luca Filippi +7 more
doaj +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
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
Nursing, 2016 Hereditary hemochromatosis is an inherited iron overload disorder that can result in liver and other end-organ involvement and injury. The phenotypic expression ranges from asymptomatic to end-stage liver disease and can be separated into three stages.
Benjamin N Smith, Matthew S Chang
+8 more sources