Results 181 to 190 of about 10,302 (227)

Eicosanoids and Oxylipin Signature in Hereditary Hemochromatosis Patients Are Similar to Dysmetabolic Iron Overload Syndrome Patients but Are Impacted by Dietary Iron Absorption.

Ann Nutr Metab
Lobbes H, Dalle C, Pereira B, Ruivard M, Mazur A, Gladine C.   +5 more
europepmc   +1 more source

Hereditary Hemochromatosis

, 2007
Iron is a major component of the Earth’s crust, but its own chemistry greatly limits utilization and also sets the basis for its toxicity. Hereditary hemochromatosis (HH) is the most common cause of iron overload in humans. For much of the twentieth century, HH was regarded as a monogenic disorder characterized by excess tissue deposits of iron ...
CORRADINI, Elena, FERRARA, Francesca, PIETRANGELO, Antonello   +2 more
openaire   +3 more sources

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

Genes, 2021
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes.
Gonzalo Hernández, Sara Pelucchi, Alberto Piperno   +2 more
exaly   +2 more sources

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Hereditary Hemochromatosis in Spain

Genetic Testing, 2000
The C282Y mutation of the HFE gene has been reported as the main cause of hereditary hemochromatosis (HH). Another missense mutation (H63D) has also been detected at an increased frequency in a compound heterozygote state with the C282Y mutation in HH patients.
M, Sánchez, M, Bruguera, E, Quintero, Y, Barrio, R, Mazzara, J, Rodés, R, Oliva   +6 more
openaire   +2 more sources

Hereditary Hemochromatosis — A New Look at an Old Disease

New England Journal of Medicine, 2004
This article has no abstract; the first 100 words appear below.For much of the 20th century, hereditary hemochromatosis was regarded as a clinically and genetically unique entity.
Antonello Pietrangelo, Pietrangelo Antonello   +1 more
exaly   +2 more sources

Hereditary hemochromatosis of tongue

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2011
Hereditary hemochromatosis (HH) refers to several inherited disorders of iron metabolism leading to tissue iron overload. Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.
Hessa, Al Wayli, Sanjay, Rastogi, Neha, Verma   +2 more
openaire   +2 more sources

The penetrance of hereditary hemochromatosis

Best Practice & Research Clinical Haematology, 2005
Since 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, Børge G, Nordestgaard, Ernest, Beutler   +2 more
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Hereditary spherocytosis and hemochromatosis

Annals of Hematology, 2002
A 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.
Brandenberg JB, Demarmels Biasiutti F, Lutz HU, Wuillemin WA   +3 more
openaire   +3 more sources

Pathogenesis of hereditary hemochromatosis

Clinics in Liver Disease, 2004
Hereditary 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
Robert E, Fleming, Robert S, Britton, Abdul, Waheed, William S, Sly, Bruce R, Bacon   +4 more
openaire   +2 more sources