The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study ... Abstract · Patients and Methods · Results · Discussion
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Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing inappropriate dietary iron absorption that affects North Europeans.
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Most HH patients are homozygous for a Cys-282→Tyr (C282Y) mutation in HFE gene, which has been shown to disrupt interaction with β2-microglobulin; a second ...
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4 thg 2, 2022 · People who are compound heterozygous (ie C282y/H63d) can load iron . · This genotype appears to be associated with a small increased chance of ...
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Two missense mutations in HFE, denoted C282Y and H63D, account for most cases of HH among individuals of European descent. ... Homozygosity for the C282Y mutation ...
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1 thg 7, 2001 · Our study found that the hemochromatosis-causing mutations C282Y and H63D played a role as risk factors for type 2 diabetes and determined the ...
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2 thg 3, 2010 · Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in ...
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2 thg 4, 2003 · The C282Y and H63D mutations in the HFE gene are important causes of hemochromatosis. In the elderly, these mutations might be associated ...
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C282Y and H63D are the most common mutations causing HH in Caucasians, but studies over the last years have revealed that these mutations have lower penetration ...
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mobilizable iron level was significantly higher in C282Y ho- mozygous males than in compound heterozygous males (P .001). Genetic screening of C282Y/H63D ...
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2 thg 3, 2007 · Biochemical iron-overload expression is lower in C282Y/H63D compound heterozygotes than in C282Y homozygotes, but comorbid factors can lead ...
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Iron overload increases the risk of disease such as liver cirrhosis, heart disease and diabetes. Two HFE genotypes have been commonly described in cases of iron ...
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28 thg 1, 2010 · The C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in our Spanish Mediterranean population. Background. Iron ...
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the gene (C282Y homozygote) would ... haemochromatosis are due to C282Y homozygosity (carrying two copies of the ... C282Y and H63D heterozygote or H63D.
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Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been ...
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