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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
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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
Neutrophils from hereditary hemochromatosis patients are protected from iron excess and are primed.
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
Hereditary hemochromatosis promotes colitis and colon cancer and causes bacterial dysbiosis in mice
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
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]
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
Hepcidin secretion was not directly proportional to intracellular iron-loading in recombinant-TfR1 HepG2 cells: short communication [PDF]
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
ACG Clinical Guideline: Hereditary Hemochromatosis
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
Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis [PDF]
Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood.
Camacho, António+7 more
core +4 more sources