Results 41 to 50 of about 198,942 (291)
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016 To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease in a tertiary care hospital.Observational study.The Aga Khan University Hospital, Karachi, from January 2002 to October 2012.Charts of patients with Hereditary Hemochromatosis (HHC) were reviewed.
Parkash, Om, Akram, Muhammad
+6 more sources
Hematology, 2013 Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected ...
Brian K, Crownover, Carlton J, Covey
openaire +5 more sources
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
Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder. [PDF]
CureusDeMaria BL, Franke AJ.
europepmc +3 more sources
Systematic Review of the Clinical Outcomes of Iron Reduction in Hereditary Hemochromatosis
Hepatology, 2020 Hereditary Hemochromatosis is a condition caused by defects in iron-sensing genes leading to parenchymal iron loading. If diagnosed early and treated appropriately, many of the complications, including liver fibrosis, cirrhosis and liver cancer ...
A. Prabhu +3 more
semanticscholar +1 more source
Seminars in Hematology, 2002 Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
+7 more sources
Mechanism for Multiple Ligand Recognition by the Human Transferrin Receptor [PDF]
, 2003 Transferrin receptor 1 (TfR) plays a critical role in cellular iron import for most higher organisms. Cell surface TfR binds to circulating iron-loaded transferrin (Fe-Tf) and transports it to acidic endosomes, where low pH promotes iron to dissociate ...
Björkman, Pamela J +3 more
core +5 more sources
Calcified Tissue International, 2020 Hereditary hemochromatosis (HHC) is characterized by excessive intestinal iron absorption resulting in a pathological increase of iron levels. Parenchyma damage may be a consequence of iron deposition in affected organs (e.g., liver, pancreas, gonads) as
N. Jandl +7 more
semanticscholar +1 more source
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
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