2025年1月9日 · Hemochromatosis (he-moe-kroe-muh-TOE-sis) is a condition that causes the body to absorb too much iron from food. Excess iron is stored in the organs, especially the …

2024年11月5日 · This study aims to characterize the evolution, impact on life expectancy, and initial prognostic factors in a modern series of patients with homozygous C282Y HH, …

A single mutation, 845A (c845A; GenBank U60319 OMIM 235200.0001) in the HFE gene results in the substitution of tyrosine for cysteine at amino acid 282 in the corresponding HFE protein …

Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is …

The HFE mutation that most commonly causes hemochromatosis is called C282Y. Another HFE mutation that may lead to iron overload is called H63D. People with two copies of C282Y are …

2008年1月17日 · Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and …

2008年11月16日 · The commonest is the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele. However, a few rare HFE mutations can be …

There is a twofold increased risk of colorectal and breast cancers in people with hereditary hemochromatosis C282Y homozygosity.

The mutation responsible for most cases of genetic haemochromatosis in Europe (HFE C282Y) appears to have been originated as a unique event on a chromosome carrying HLA-A3 and …

Recent studies report the clinical penetrance of C282Y homozygous hereditary haemochromatosis is much lower than its prevalence, with possibly less than 5% developing …