Results 191 to 200 of about 10,302 (227)
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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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Hereditary Hemochromatosis in Adults without Pathogenic Mutations in the Hemochromatosis Gene
New England Journal of Medicine, 1999 Background and Methods Hereditary hemochromatosis in adults is usually characterized by mutations in the hemochromatosis (HFE) gene on the short arm of chromosome 6. Most patients have a substitution of tyrosine for cysteine at position 282 (C282Y).
Antonello Pietrangelo +2 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.
P D, Phatak, J D, Cappuccio
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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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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 England Journal of Medicine, 1977
We studied five patients with clinically manifest hemochromatosis and 19 of their siblings and children to define better the diagnostic criteria for stages of the disease. The earliest detectable abnormalities were an increase in hepatic-parenchymal-cell stainable iron, hepatic iron concentration, transferrin saturation and serum iron concentration. In
C Q, Edwards +3 more
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We studied five patients with clinically manifest hemochromatosis and 19 of their siblings and children to define better the diagnostic criteria for stages of the disease. The earliest detectable abnormalities were an increase in hepatic-parenchymal-cell stainable iron, hepatic iron concentration, transferrin saturation and serum iron concentration. In
C Q, Edwards +3 more
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New England Journal of Medicine, 1979
Previous studies have shown that hemochromatosis is an inherited, autosomal-recessive disease and that the gene is closely linked to the HLA locus on chromosome 6. We obtained a lod score for linkage of +9.8 for a recombination fraction of 0.0 and a gene frequency of 0.056, the frequency estimated in this population.
G E, Cartwright +6 more
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Previous studies have shown that hemochromatosis is an inherited, autosomal-recessive disease and that the gene is closely linked to the HLA locus on chromosome 6. We obtained a lod score for linkage of +9.8 for a recombination fraction of 0.0 and a gene frequency of 0.056, the frequency estimated in this population.
G E, Cartwright +6 more
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The Journal of the American Board of Family Practice, 2001
The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease.A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism.Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting ...
Phillip B. Amidon, Rhonda D. Jankovich
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The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease.A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism.Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting ...
Phillip B. Amidon, Rhonda D. Jankovich
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Arthropathy in hereditary hemochromatosis
Current Opinion in Rheumatology, 2001Arthropathy is one of the leading clinical manifestations of hereditary hemochromatosis (HH). Although cirrhosis of the liver is crucial for mortality in patients with HH, arthropathy has the greatest impact on the quality of life. Several mutations in the HFE and other genes have recently been identified, and the prevalence of some of these mutations ...
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Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi, 2008
Hereditary hemochromatosis is an inherited disorder of iron metabolism in the Caucasian population with an autosomal recessive inheritance and a prevalence between 1 in 200 and 1 in 500. Until the discovery of HFE gene the diagnosis of hemochromatosis required documentation of iron overload or family linkage using HLA testing. The discovery of HFE gene
Camelia, Cojocariu +2 more
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Hereditary hemochromatosis is an inherited disorder of iron metabolism in the Caucasian population with an autosomal recessive inheritance and a prevalence between 1 in 200 and 1 in 500. Until the discovery of HFE gene the diagnosis of hemochromatosis required documentation of iron overload or family linkage using HLA testing. The discovery of HFE gene
Camelia, Cojocariu +2 more
openaire +1 more source