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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
Robert E, Fleming +4 more
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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 +2 more
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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 +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.
Brandenberg JB +3 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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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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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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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 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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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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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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