Results 171 to 180 of about 113,339 (205)
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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
openaire +2 more sources
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
openaire +2 more sources
Journal of insurance medicine (New York, N.Y.), 2001
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
S, Durupt +5 more
+6 more sources
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
S, Durupt +5 more
+6 more sources
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
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Genes, 2021Alberto Piperno +2 more
exaly
The Journal of family practice, 1997
Hereditary hemochromatosis (HHC) is an inherited disease transmitted in an autosomal recessive pattern. With homozygosity occurring in up to 0.5% of the population, HHC is the most prevalent genetic disease among the white population worldwide and has the same prevalence as the sickle cell trait in the African-American population.
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Hereditary hemochromatosis (HHC) is an inherited disease transmitted in an autosomal recessive pattern. With homozygosity occurring in up to 0.5% of the population, HHC is the most prevalent genetic disease among the white population worldwide and has the same prevalence as the sickle cell trait in the African-American population.
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Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening
Genes, 2022Joerg Schmidtke
exaly