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HFE POLYMORPHISM

MedGen UID:
865759
•Concept ID:
C4017322
•
Finding
OMIM®: 613609

Professional guidelines

PubMed

Healing of chronic venous leg ulcers could be affected by an interaction of the hemochromatosis gene polymorphism HFE H63D with the strength of compression treatment--a re-analysis of patients from previous studies.
Blättler W, Lüscher D, Brizzio E, Willenberg T, Baumgartner I, Amsler F
Wound Repair Regen 2012 Jan-Feb;20(1):123-4. Epub 2011 Dec 8 doi: 10.1111/j.1524-475X.2011.00752.x. PMID: 22150832

Recent clinical studies

Etiology

Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.
Kroll DS, McPherson KL, Manza P, Schwandt ML, Shen PH, Goldman D, Diazgranados N, Wang GJ, Wiers CE, Volkow ND
Addict Biol 2022 Mar;27(2):e13144. doi: 10.1111/adb.13144. PMID: 35229939Free PMC Article
Statins accelerate disease progression and shorten survival in SOD1(G93A) mice.
Su XW, Nandar W, Neely EB, Simmons Z, Connor JR
Muscle Nerve 2016 Aug;54(2):284-91. Epub 2016 May 19 doi: 10.1002/mus.25048. PMID: 26799243Free PMC Article
Iron in Frontotemporal Lobar Degeneration: A New Subcortical Pathological Pathway?
Gazzina S, Premi E, Zanella I, Biasiotto G, Archetti S, Cosseddu M, Scarpini E, Galimberti D, Serpente M, Gasparotti R, Padovani A, Borroni B
Neurodegener Dis 2016;16(3-4):172-8. Epub 2015 Nov 28 doi: 10.1159/000440843. PMID: 26613252
Is H63D a 'minor' HFE polymorphism?
Pinto-Pais T, Fernandes S, Fernandes C, Ribeiro I, Leite S, Silva AP, Alberto L, Fraga J, Carvalho J
Gastroenterol Hepatol 2015 Dec;38(10):588-9. Epub 2015 Apr 23 doi: 10.1016/j.gastrohep.2015.02.009. PMID: 25912127
HFE polymorphisms affect survival of brain tumor patients.
Lee SY, Slagle-Webb B, Sheehan JM, Zhu J, Muscat JE, Glantz M, Connor JR
J Neurooncol 2015 Mar;122(1):97-104. Epub 2014 Dec 10 doi: 10.1007/s11060-014-1681-1. PMID: 25491948

Diagnosis

Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.
García-Fraile LJ, García-Buey L, Alonso Cerezo C, Sanz Sanz J, de Los Santos Gil I
Gastroenterol Hepatol 2022 Apr;45(4):249-255. Epub 2021 Sep 22 doi: 10.1016/j.gastrohep.2021.09.001. PMID: 34562521
Statins accelerate disease progression and shorten survival in SOD1(G93A) mice.
Su XW, Nandar W, Neely EB, Simmons Z, Connor JR
Muscle Nerve 2016 Aug;54(2):284-91. Epub 2016 May 19 doi: 10.1002/mus.25048. PMID: 26799243Free PMC Article
HFE polymorphisms affect survival of brain tumor patients.
Lee SY, Slagle-Webb B, Sheehan JM, Zhu J, Muscat JE, Glantz M, Connor JR
J Neurooncol 2015 Mar;122(1):97-104. Epub 2014 Dec 10 doi: 10.1007/s11060-014-1681-1. PMID: 25491948
H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxide dismutase-1 expression in amyotrophic lateral sclerosis patients.
Su XW, Lee SY, Mitchell RM, Stephens HE, Simmons Z, Connor JR
Muscle Nerve 2013 Aug;48(2):242-6. Epub 2013 Jun 29 doi: 10.1002/mus.23740. PMID: 23813494
Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.
Sachot S, Moirand R, Jouanolle AM, Mosser J, Fergelot P, Deugnier Y, Brissot P, le Gall JY, David V
Blood Cells Mol Dis 2001 Mar-Apr;27(2):518-29. doi: 10.1006/bcmd.2001.0394. PMID: 11500063

Therapy

Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.
García-Fraile LJ, García-Buey L, Alonso Cerezo C, Sanz Sanz J, de Los Santos Gil I
Gastroenterol Hepatol 2022 Apr;45(4):249-255. Epub 2021 Sep 22 doi: 10.1016/j.gastrohep.2021.09.001. PMID: 34562521
Statins accelerate disease progression and shorten survival in SOD1(G93A) mice.
Su XW, Nandar W, Neely EB, Simmons Z, Connor JR
Muscle Nerve 2016 Aug;54(2):284-91. Epub 2016 May 19 doi: 10.1002/mus.25048. PMID: 26799243Free PMC Article
Hemochromatosis gene mutations and distal adenomatous colorectal polyps.
McGlynn KA, Sakoda LC, Hu Y, Schoen RE, Bresalier RS, Yeager M, Chanock S, Hayes RB, Buetow KH
Cancer Epidemiol Biomarkers Prev 2005 Jan;14(1):158-63. PMID: 15668490

Prognosis

Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.
Kroll DS, McPherson KL, Manza P, Schwandt ML, Shen PH, Goldman D, Diazgranados N, Wang GJ, Wiers CE, Volkow ND
Addict Biol 2022 Mar;27(2):e13144. doi: 10.1111/adb.13144. PMID: 35229939Free PMC Article
Statins accelerate disease progression and shorten survival in SOD1(G93A) mice.
Su XW, Nandar W, Neely EB, Simmons Z, Connor JR
Muscle Nerve 2016 Aug;54(2):284-91. Epub 2016 May 19 doi: 10.1002/mus.25048. PMID: 26799243Free PMC Article
HFE polymorphisms affect survival of brain tumor patients.
Lee SY, Slagle-Webb B, Sheehan JM, Zhu J, Muscat JE, Glantz M, Connor JR
J Neurooncol 2015 Mar;122(1):97-104. Epub 2014 Dec 10 doi: 10.1007/s11060-014-1681-1. PMID: 25491948
Alanine aminotransferase flare-up in hepatitis C virus carriers with persistently normal alanine aminotransferase levels in a hyperendemic area of Japan.
Uto H, Kurogi J, Takahama Y, Kusumoto K, Hayashi K, Ido A, Kohara M, Stuver SO, Moriuchi A, Hasegawa S, Oketani M, Tsubouchi H
J Gastroenterol 2007 Aug;42(8):673-80. Epub 2007 Aug 24 doi: 10.1007/s00535-007-2078-0. PMID: 17701131

Clinical prediction guides

Association of iron supplementation, HFE and AMPD1 polymorphisms and biochemical iron metabolism parameters in the performance of a men's World Tour cycling team: A pilot study.
Varillas-Delgado D
J Trace Elem Med Biol 2024 Jul;84:127470. Epub 2024 May 11 doi: 10.1016/j.jtemb.2024.127470. PMID: 38744035
Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.
Kroll DS, McPherson KL, Manza P, Schwandt ML, Shen PH, Goldman D, Diazgranados N, Wang GJ, Wiers CE, Volkow ND
Addict Biol 2022 Mar;27(2):e13144. doi: 10.1111/adb.13144. PMID: 35229939Free PMC Article
Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.
García-Fraile LJ, García-Buey L, Alonso Cerezo C, Sanz Sanz J, de Los Santos Gil I
Gastroenterol Hepatol 2022 Apr;45(4):249-255. Epub 2021 Sep 22 doi: 10.1016/j.gastrohep.2021.09.001. PMID: 34562521
Iron in Frontotemporal Lobar Degeneration: A New Subcortical Pathological Pathway?
Gazzina S, Premi E, Zanella I, Biasiotto G, Archetti S, Cosseddu M, Scarpini E, Galimberti D, Serpente M, Gasparotti R, Padovani A, Borroni B
Neurodegener Dis 2016;16(3-4):172-8. Epub 2015 Nov 28 doi: 10.1159/000440843. PMID: 26613252
Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.
Sachot S, Moirand R, Jouanolle AM, Mosser J, Fergelot P, Deugnier Y, Brissot P, le Gall JY, David V
Blood Cells Mol Dis 2001 Mar-Apr;27(2):518-29. doi: 10.1006/bcmd.2001.0394. PMID: 11500063

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    • OMIM
      Related records in OMIM

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