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The penetrance of hereditary hemochromatosis
Best Practice & Research Clinical Haematology, 2005Since its original description as a rare disease of iron overload resulting in liver disease, diabetes mellitus, and bronzing of the skin ('bronze diabetes'), hereditary hemochromatosis has undergone several redefinitions leading to widely varying estimates of its prevalence.
Jill Waalen +2 more
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Hereditary spherocytosis and hemochromatosis
Annals of Hematology, 2002A 37-year-old male, splenectomized at the age of 1 year, was admitted to the ward with severe chest pain and signs of cardiogenic shock. Clinical investigations revealed the presence of both hemochromatosis and hereditary spherocytosis (HS). HLA typing showed A3,B7 and A24,B57 haplotypes and genetic analysis revealed homozygosity for the C282Y mutation.
J B Brandenberg +3 more
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Nursing Clinics of North America, 2000
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
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Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
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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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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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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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Endocrine dysfunction in hereditary hemochromatosis
Journal of Endocrinological Investigation, 2016Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading ...
PELUSI, CARLA +3 more
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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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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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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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