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107 Possible Causes for Mutation in the Hereditary Hemochromatosis Gene

  • Hemochromatosis

    Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[ncbi.nlm.nih.gov] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.com] Sanger sequencing was conducted for the screening of mutation in the hereditary hemochromatosis related genes.[ncbi.nlm.nih.gov]

  • Iron Deficiency

    A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408. PubMed CrossRef Google Scholar 8.[doi.org] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996; 13 :399–408. [ PubMed ] [ Google Scholar ] 8.[ncbi.nlm.nih.gov] Iron overload in Africans and African-Americans and a common mutation in the SLC40A1 (ferroportin 1) gene. Blood Cells Mol Dis. 2003;31:299–304.[doi.org]

  • Congestive Heart Failure

    The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] […] hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal recessive disorder, is the most common hereditary[doi.org]

  • Heart Failure

    The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] […] hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal recessive disorder, is the most common hereditary[doi.org]

  • Liver Cirrhosis

    We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] […] and liver cirrhosis due to hemochromatosis.[ncbi.nlm.nih.gov]

  • Pseudogout

    Causes of CPPD can be divided into: idiopathic hereditary AD pattern; mutation in the ANKH gene which encodes a transmembrane inorganic pyrophosphate transporter secondary[radiopaedia.org] hemochromatosis hyperparathyroidism hypothyroidism hypomagnesaemia 2 previous joint injury ochronosis CPPD has many features of osteoarthritis with an unusual distribution[radiopaedia.org] hemochromatosis hyperparathyroidism hypothyroidism hypomagnesemia 2 previous joint injury ochronosis CPPD has many features of osteoarthritis with an unusual distribution[radiopaedia.org]

  • Alopecia Areata

    Hereditary hemochromatosis (HHC) is a common genetic disorder of iron overload, caused by mutations in the HFE gene.[ncbi.nlm.nih.gov]

  • Pathological Fracture

    (Fleming and Bacon, 2005; Crownover and Covey, 2013) Hereditary Hemochromatosis Hereditary hemochromatosis (HHC) due to mutations in the HFE gene is an autosomal recessive[webpath.med.utah.edu]

  • Thalassemia Minor

    […] of the hereditary hemochromatosis gene (HFE gene), iron overload may ensue.[ncbi.nlm.nih.gov] Other members of the family with either beta-thalassemia or heterozygous for the H63D gene mutation did not develop iron overload.[ncbi.nlm.nih.gov] The interaction between beta-thalassemia and hereditary hemochromatosis is briefly discussed and speculations about other possible genetic mutations leading into familial[ncbi.nlm.nih.gov]

  • Primary Hemochromatosis Type 1

    Have identified at least eight mutations in the HAMP gene that result in juvenile hereditary hemochromatosis or hereditary hemochromatosis type 2.[ivami.com] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.org] Type 1 : HFE OMIM: #235200 classical hemochromatosis also called hereditary hemochromatosis Mutation at the HFE gene on the short arm of the chromosome 6 position 6p21.3 encoding[i12r-studfilesrv.informatik.tu-muenchen.de]

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