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  2. Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org/wiki/Hereditary_haemochromatosis

    A study of 3,011 unrelated white Australians found that 14% were heterozygous carriers of an HFE mutation, 0.5% were homozygous for an HFE mutation, and only 0.25% of the study population had clinically relevant iron overload. Most patients who are homozygous for HFE mutations do not manifest clinically relevant haemochromatosis (see Genetics ...

  3. HFE (gene) - Wikipedia

    en.wikipedia.org/wiki/HFE_(gene)

    At least 42 mutations involving HFE introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. [25] Most of these mutations are rare. Many of the mutations cause or probably cause hemochromatosis phenotypes, often in compound heterozygosity with HFE C282Y.

  4. HFE H63D gene mutation - Wikipedia

    en.wikipedia.org/wiki/HFE_H63D_gene_mutation

    This mutation is associated with diverse health issues, however H63D syndrome is the only known specific expression of a homozygous HFE-H63D mutation to date. The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the ...

  5. Haemochromatosis type 3 - Wikipedia

    en.wikipedia.org/wiki/Haemochromatosis_type_3

    Majority of the cases of hemochromatosis are caused by mutations in the HFE (Homeostatic Iron Regulator) gene. [17] Type 3 HH is characterized by compound heterozygote mutations in both transferrin receptor 2 (TFR2) and HFE, i.e. a single mutation in each gene. HFE is located on chromosome 6 and TFR2 is located on chromosome 7.

  6. Iron overload - Wikipedia

    en.wikipedia.org/wiki/Iron_overload

    [39] [15] The presence of HFE gene mutations in addition to iron overload confirms the clinical diagnosis of hereditary hemochromatosis. [39] The alleles evaluated by HFE gene analysis are evident in ~80% of patients with hemochromatosis; a negative report for HFE gene does not rule out hemochromatosis. [citation needed]

  7. Compound heterozygosity - Wikipedia

    en.wikipedia.org/wiki/Compound_heterozygosity

    Clinically, most cases of hemochromatosis are found in homozygotes for the most common mutation in the HFE gene. [1] But at each gene locus associated with the disease, there is the possibility of compound heterozygosity, often caused by inheritance of two unrelated alleles, of which one is a common or classic mutation, while the other is a ...

  8. HuffPost Data

    projects.huffingtonpost.com

    Visualization, analysis, interactive maps and real-time graphics. Browse, copy and fork our open-source software; Remix thousands of aggregated polling results;

  9. Transferrin receptor 2 - Wikipedia

    en.wikipedia.org/wiki/Transferrin_receptor_2

    This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.