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Pathogenesis of hereditary hemochromatosis
Clinics in Liver Disease, 2004Hereditary hemochromatosis comprises several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorpstion and resultant tissue iron deposition. The identification of HFE and other genes involved in iron metabolism has greatly expanded our understanding of hereditary hemochromatosis. Two major hypotheses have been
Abdul Waheed +4 more
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Detecting Hereditary Hemochromatosis
The Nurse Practitioner, 2000Hereditary hemochromatosis is the most commonly inherited autosomal recessive disorder. Hemochromatosis is a current or potential progression of abnormally high accumulations of iron in the liver. If left untreated, the condition can lead to chronic or irreversible hepatic fibrosis, cirrhosis, hepatocellular carcinoma, arthritis, and organ failure ...
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Management of hereditary hemochromatosis
Blood Reviews, 1994Hereditary hemochromatosis is a common disorder of iron metabolism with a prevalence as high as 8 per 1000. Affected individuals absorb excessive amounts of dietary iron and over time, tissue iron deposition results in skin discoloration, arthropathy, hepatic cirrhosis, heart failure, diabetes mellitus and impotence.
J.D. Cappuccio, P.D. Phatak
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What Is Hereditary Hemochromatosis?
JAMA, 2022This JAMA Patient Page describes hereditary hemochromatosis (excessive buildup of iron in the body) and its symptoms, diagnosis, and treatment.
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The Immunogenetics of Hereditary Hemochromatosis
The American Journal of the Medical Sciences, 1991Hereditary hemochromatosis (HH), an iron overload disease caused by unregulated intestinal iron absorption, is a recessive HLA-linked disease. HH is the most common inherited metabolic disorder with one of every 400 to 500 individuals having both genes and being likely to develop the disease.
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New Developments in Hereditary Hemochromatosis
The American Journal of the Medical Sciences, 1999The iron content of the body is normally tightly controlled by regulation of iron absorption. In hereditary hemochromatosis, mutation of an HLA class 1 gene, designated HFE, results in excessive iron absorption. Over many years, accumulating iron produces tissue damage, most notably cirrhosis, cardiomyopathy, diabetes, and arthropathies.
Vincent J. Felitti, Ernest Beutler
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Clinical Perspectives on Hereditary Hemochromatosis
Critical Reviews in Clinical Laboratory Sciences, 2008Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene mutations has defined other types of HH,
Ayonrinde, Oyekoya T. +4 more
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Recent advances in hereditary hemochromatosis
Annals of Hematology, 2005Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated in a timely manner. Recent developments in the field of molecular medicine have radically improved the understanding of the physiopathology and diagnosis
Dino Veneri, Massimo Franchini
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Hereditary hemochromatosis: update for 2003
Journal of Hepatology, 2003The term ‘hemochromatosis’ was first used by von Recklinghausen, a German pathologist in the late 1800s [1]; he determined that the pigmentation seen in patients with advanced hemochromatosis was due to iron. In 1935, Joseph Sheldon, a British geriatrician, published a monograph describing over 300 patients with hemochromatosis [2].
Stephen A. Harrison, Bruce R. Bacon
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Research Priorities in Hereditary Hemochromatosis
Annals of Internal Medicine, 1998The Working Group on Research Priorities used a formal nominal group technique to identify and prioritize the specific aims of applied research needed to provide the scientific basis for population screening for iron overload disorders. The most important applied research goal was characterization of the natural history of the relation between genotype
Adele L. Franks +2 more
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