HFE H63D gene mutation information

The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption.^[1]^[2]^[3]

Homozygous H63D variant can occasionally be the cause of hemochromatosis. It is also associated with the occurrence of other conditions like hypotransferrinemia,^[4]^[5] liver dysfunction,^[6]^[7] bone and joint issues, diabetes mellitus, heart disease, hormone imbalances, porphyria cutanea tarda (PCT), infertility, stroke,^[8] neurodegenerative and brain damages,^[9] some cancers, venous and peripheral artery disease.^[10]^[11]

^ Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR (September 2008). "Hereditary hemochromatosis in the post-HFE era". Hepatology. 48 (3): 991–1001. doi:10.1002/hep.22507. PMC 2548289. PMID 18752323.
^ "Hemochromatosis: Causes". Mayo Foundation for Medical Education and Research (MFMER).
^ den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (June 2016). "HGVS Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183.
^ Fujii H, Takagaki N, Yoh T, et al. (2008). "Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene". Hepatology Research. 38 (3): 319–23. doi:10.1111/j.1872-034X.2007.00266.x. PMID 17944940. S2CID 30008466.
^ Castiella A, Urreta I, Zapata E, et al. (2019). "H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome". Eur. J. Intern. Med. (Letter to the Editor). 72: 106–107. doi:10.1016/j.ejim.2019.11.021. PMID 31796245. S2CID 208623301.
^ Raszeja-Wyszomirska J, Kurzawski G, Zawada I, et al. (2010). "HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland". Polish Archives of Internal Medicine. 120 (4): 127–31. doi:10.20452/pamw.905. PMID 20424537.
^ Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.
^ Ellervik C, Tybjaerg-Hansen A, Appleyard M, et al. (2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025–31. doi:10.1212/01.wnl.0000257814.77115.d6. PMID 17389307. S2CID 43908712.
^ Liu Y, Lee SY, Neely E, et al. (2011). "Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability". J. Biol. Chem. 286 (15): 13161–70. doi:10.1074/jbc.M110.170944. PMC 3075663. PMID 21349849.
^ Mitchell RM, Lee SY, Simmons Z, et al. (2011). "HFE polymorphisms affect cellular glutamate regulation". Neurobiol. Aging. 32 (6): 1114–23. doi:10.1016/j.neurobiolaging.2009.05.016. PMID 19560233. S2CID 22440350.
^ "H63D - The Other Mutation" (PDF). Iron Disorders Institute nanograms. 2010.

[pmid18752323-1] Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR (September 2008). "Hereditary hemochromatosis in the post-HFE era". Hepatology. 48 (3): 991–1001. doi:10.1002/hep.22507. PMC 2548289. PMID 18752323.

[2] "Hemochromatosis: Causes". Mayo Foundation for Medical Education and Research (MFMER).

[pmid26931183-3] Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (June 2016). "HGVS Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183.

[4] Fujii H, Takagaki N, Yoh T, et al. (2008). "Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene". Hepatology Research. 38 (3): 319–23. doi:10.1111/j.1872-034X.2007.00266.x. PMID 17944940. S2CID 30008466.

[5] Castiella A, Urreta I, Zapata E, et al. (2019). "H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome". Eur. J. Intern. Med. (Letter to the Editor). 72: 106–107. doi:10.1016/j.ejim.2019.11.021. PMID 31796245. S2CID 208623301.

[:0-6] Raszeja-Wyszomirska J, Kurzawski G, Zawada I, et al. (2010). "HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland". Polish Archives of Internal Medicine. 120 (4): 127–31. doi:10.20452/pamw.905. PMID 20424537.

[7] Valenti L, Fracanzani AL, Bugianesi E, et al. (2010). "HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease". Gastroenterology. 138 (3): 905–12. doi:10.1053/j.gastro.2009.11.013. hdl:2318/85426. PMID 19931264. S2CID 13091615.

[8] Ellervik C, Tybjaerg-Hansen A, Appleyard M, et al. (2007). "Hereditary hemochromatosis genotypes and risk of ischemic stroke". Neurology. 68 (13): 1025–31. doi:10.1212/01.wnl.0000257814.77115.d6. PMID 17389307. S2CID 43908712.

[9] Liu Y, Lee SY, Neely E, et al. (2011). "Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability". J. Biol. Chem. 286 (15): 13161–70. doi:10.1074/jbc.M110.170944. PMC 3075663. PMID 21349849.

[10] Mitchell RM, Lee SY, Simmons Z, et al. (2011). "HFE polymorphisms affect cellular glutamate regulation". Neurobiol. Aging. 32 (6): 1114–23. doi:10.1016/j.neurobiolaging.2009.05.016. PMID 19560233. S2CID 22440350.

[11] "H63D - The Other Mutation" (PDF). Iron Disorders Institute nanograms. 2010.

HFE H63D gene mutation information

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HFE H63D gene mutation

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