Results 21 to 30 of about 10,302 (227)

Homozygous TFR2 (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia. [PDF]

Clin Case Rep
ABSTRACT Hereditary hemochromatosis (HH) is an inherited disorder of iron metabolism characterized by progressive iron accumulation in multiple organs. While most cases are associated with HFE mutations, non‐HFE variants such as mutations in the transferrin receptor‐2 (TFR2) gene represent rare causes of iron overload.
Raslan OM, Alamoudi DS.
europepmc   +2 more sources

Hereditary hemochromatosis: Retrospective study on clinical data from Emergency County Hospital Mures

Acta Marisiensis - Seria Medica, 2022
Objective: Hereditary hemochromatosis, or primary hemochromatosis, is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and ...
Sigmirean Victor
doaj   +1 more source

Circulating TREM2 as a noninvasive diagnostic biomarker for NASH in patients with elevated liver stiffness

Hepatology, EarlyView., 2022
Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran, Charlotte Wilhelmina Wernberg, Mette Munk Lauridsen, Maria Kløjgaard Skytthe, Sofie Marchsteiner Bendixen, Frederik Tibert Larsen, Camilla Dalby Hansen, Lea Ladegaard Grønkjær, Majken Storm Siersbæk, Tina Di Caterino, Sönke Detlefsen, Holger Jon Møller, Lars Grøntved, Kim Ravnskjaer, Søren Kragh Moestrup, Maja Sofie Thiele, Aleksander Krag, Jonas Heilskov Graversen   +17 more
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Protein Susceptibility to Peroxidation by 4-Hydroxynonenal in Hereditary Hemochromatosis. [PDF]

Int J Mol Sci, 2023
Iron overload caused by hereditary hemochromatosis (HH) increases free reactive oxygen species that, in turn, induce lipid peroxidation. Its 4-hydroxynonenal (HNE) by-product is a well-established marker of lipid peroxidation since it reacts with ...
Sánchez-Jaut S, Pérez-Benavente S, Abad P, Méndez-Cuadro D, Puyet A, Diez A, Galicia-Poblet G, Gómez-Domínguez E, Moran-Jiménez MJ, Bautista JM, Azcárate IG.   +10 more
europepmc   +2 more sources

Hemochromatosis - modern condition of the problem [PDF]

Терапевтический архив, 2018
The iron overload syndrome can be associated with various acquired states and hereditary factors. Hereditary hemochromatosis is the most common genetic disorder. Without therapeutic intervention the disease can lead to the development of life-threatening
N B Voloshina, M F Osipenko, N V Litvinova, A N Voloshin   +3 more
doaj   +1 more source

Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report

Journal of Medical Case Reports, 2020
Introduction Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by excessive iron deposition in major organs of the body, leading to multi-organ dysfunction. It is a genetically heterogeneous disease caused by mutations
Wasanthi Wickramasinghe, Chathurika Karunathilaka, Saroj Jayasinghe, Lallindra Gooneratne   +3 more
doaj   +1 more source

Pathophysiology of Hereditary Hemochromatosis [PDF]

Seminars in Liver Disease, 2005
Hereditary hemochromatosis (HH) encompasses several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorption and tissue iron deposition. The most common form of this disorder is HFE-related HH, nearly always caused by homozygosity for the C282Y mutation.
Robert E, Fleming, Robert S, Britton, Abdul, Waheed, William S, Sly, Bruce R, Bacon   +4 more
openaire   +2 more sources

Hereditary hemochromatosis

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

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