Effects Of C282Y, H63D, And S65C HFE Gene Mutations, Diet, And ...

Clipboard, Search History, and several other advanced features are temporarily unavailable. Skip to main page content

The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation Search: Search Advanced Clipboard Save Email Send to

• Clipboard
• My Bibliography
• Collections
• Citation manager

Display options Display options Format Abstract PubMed PMID

Save citation to file

Format: Summary (text) PubMed PMID Abstract (text) CSV Create file Cancel

Email citation

Subject: 1 selected item: 20107990 - PubMed To: From: Format: Summary Summary (text) Abstract Abstract (text) MeSH and other data Send email Cancel

Add to Collections

• Create a new collection
• Add to an existing collection

Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an error Please try again Add Cancel

Add to My Bibliography

• My Bibliography

Unable to load your delegates due to an error Please try again Add Cancel

Your saved search

Name of saved search: Search terms: Test search terms Would you like email updates of new search results? Saved Search Alert Radio Buttons

• Yes
• No

Email: (change) Frequency: Monthly Weekly Daily Which day? The first Sunday The first Monday The first Tuesday The first Wednesday The first Thursday The first Friday The first Saturday The first day The first weekday Which day? Sunday Monday Tuesday Wednesday Thursday Friday Saturday Report format: Summary Summary (text) Abstract Abstract (text) PubMed Send at most: 1 item 5 items 10 items 20 items 50 items 100 items 200 items Send even when there aren't any new results Optional text in email: Save Cancel

Create a file for external citation management software

Create file Cancel

Your RSS Feed

Name of RSS Feed: Number of items displayed: 5 10 15 20 50 100 Create RSS Cancel RSS Link Copy

Full text links

Springer Free PMC article Full text links

Actions

CiteCollectionsAdd to Collections

• Create a new collection
• Add to an existing collection

Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an errorPlease try again Add Cancel Display options Display options Format AbstractPubMedPMID

Share

• Permalink Copy

Page navigation

• Title & authors
• Abstract
• Similar articles
• Cited by
• References
• Publication types
• MeSH terms
• Substances
• Related information
• Grants and funding
• LinkOut - more resources

Title & authors Abstract Similar articles Cited by References Publication types MeSH terms Substances Related information Grants and funding LinkOut - more resources Full text links CiteDisplay options Display options Format AbstractPubMedPMID

Abstract

Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption. Dietary quality, alcoholism and other life-style factors can increase the risk of iron overload, especially among genetically at risk populations. Polymorphisms of the HFE gene (C282Y, H63D and S65C) were measured together with serum ferritin (SF), transferrin saturation (TS) and hemoglobin, to measure iron status, in randomly-selected healthy subjects living in the Spanish Mediterranean coast (n = 815; 425 females, 390 males), 18 to 75 years of age. The intake of dietary components that affect iron absorption was calculated from 3-day dietary records. The presence of C282Y/H63D compound heterozygote that had a prevalence of 2.8% in males and 1.2% in females was associated with an elevated TS and SF. No subject was homozygous for C282Y or S65C. The C282Y heterozygote, H63D heterozygote and homozygote and H63D/S65C compound heterozygote genotypes were associated with increased TS relative to the wild type in the general population. These genotypes together with the alcohol and iron intake increase the indicators of iron status, while calcium intake decreases them. We did not observe any affect of the S65C heterozygote genotype on these levels. All the HFE genotypes except for the S65C heterozygote together with the alcohol, iron and calcium intake affect the indicators of iron status. The C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in our Spanish Mediterranean population.

PubMed Disclaimer

Similar articles

• HFE gene mutations an Apulian population: allele frequencies. Pietrapertosa A, Vitucci A, Campanale D, Palma A, Renni R, Delios G, Tannoia N. Pietrapertosa A, et al. Eur J Epidemiol. 2003;18(7):685-9. doi: 10.1023/a:1024844906872. Eur J Epidemiol. 2003. PMID: 12952143
• [Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload]. Campos Franco J, González Quintela A, Fernández de Trocóniz LL, Barros Angueira F, Pérez-Quintela BV, Pérez Becerra E, Martínez de Rituerto ST, Otero Antón E, Torre Carballada JA. Campos Franco J, et al. Rev Clin Esp. 2002 Oct;202(10):534-9. doi: 10.1016/s0014-2565(02)71137-5. Rev Clin Esp. 2002. PMID: 12361551 Spanish.
• Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Holmström P, Marmur J, Eggertsen G, Gåfvels M, Stål P. Holmström P, et al. Gut. 2002 Nov;51(5):723-30. doi: 10.1136/gut.51.5.723. Gut. 2002. PMID: 12377814 Free PMC article.
• Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ. Burke W, et al. Genet Med. 2000 Sep-Oct;2(5):271-7. doi: 10.1097/00125817-200009000-00001. Genet Med. 2000. PMID: 11399207 Review.
• Iron Overload in an HFE Heterozygous Carrier: A Case Report and Literature Review. Turbiville D, Du X, Yo J, Jana BR, Dong J. Turbiville D, et al. Lab Med. 2019 Apr 8;50(2):212-217. doi: 10.1093/labmed/lmy065. Lab Med. 2019. PMID: 30339210 Review.

See all similar articles

Cited by

• Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report. Li D, Li J, Zhang H, Zhu Q, Wang T, Zhao W, Zhao S, Li W. Li D, et al. Heliyon. 2024 Mar 21;10(7):e28046. doi: 10.1016/j.heliyon.2024.e28046. eCollection 2024 Apr 15. Heliyon. 2024. PMID: 38560130 Free PMC article.
• Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil. Kersting N, Fontana JC, Athayde FP, Carlotto FM, Machado BA, Araújo CDSR, Sekine L, Onsten TGH, Leistner-Segal S. Kersting N, et al. Genet Mol Biol. 2023 May 22;46(2):e20220230. doi: 10.1590/1678-4685-GMB-2022-0230. eCollection 2023. Genet Mol Biol. 2023. PMID: 37216649 Free PMC article.
• H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient. Nasrullah H, Nasrullah A, Ijaz N, Hayat U. Nasrullah H, et al. Cureus. 2022 Nov 23;14(11):e31840. doi: 10.7759/cureus.31840. eCollection 2022 Nov. Cureus. 2022. PMID: 36579242 Free PMC article.
• Gradient Boosting Machine Identified Predictive Variables for Breast Cancer Patients Pre- and Post-Radiotherapy: Preliminary Results of an 8-Year Follow-Up Study. Rodríguez-Tomàs E, Arenas M, Baiges-Gaya G, Acosta J, Araguas P, Malave B, Castañé H, Jiménez-Franco A, Benavides-Villarreal R, Sabater S, Solà-Alberich R, Camps J, Joven J. Rodríguez-Tomàs E, et al. Antioxidants (Basel). 2022 Dec 2;11(12):2394. doi: 10.3390/antiox11122394. Antioxidants (Basel). 2022. PMID: 36552602 Free PMC article.
• C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease. Hasan SMM, Farrell J, Borgaonkar M. Hasan SMM, et al. J Can Assoc Gastroenterol. 2022 Jul 28;5(5):240-247. doi: 10.1093/jcag/gwac025. eCollection 2022 Oct. J Can Assoc Gastroenterol. 2022. PMID: 36196271 Free PMC article.

See all "Cited by" articles

References

1. 1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class-I like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408. doi: 10.1038/ng0896-399. - DOI - PubMed
2. 1. Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, et al. The hemochromatosis founder mutation in HLA-H disrupts beta-2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272:14025–14028. doi: 10.1074/jbc.272.22.14025. - DOI - PubMed
3. 1. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet Test. 2000;4:183–198. doi: 10.1089/10906570050114902. - DOI - PubMed
4. 1. Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol. 2001;154:193–206. doi: 10.1093/aje/154.3.193. - DOI - PubMed
5. 1. Aranda N, Viteri FE, Fernandez-Ballart J, Murphy M, Arija V. Frequency of the hemochromatosis gene (HFE) 282C–>Y, 63H–>D, and 65S–>C mutations in a general Mediterranean population from Tarragona, Spain. Ann Hematol. 2007;86:17–21. doi: 10.1007/s00277-006-0179-0. - DOI - PubMed

Show all 49 references

Publication types

• Research Support, N.I.H., Extramural Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Research Support, Non-U.S. Gov't Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

MeSH terms

• Adolescent Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Adult Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Aged Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Diet* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Female Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Ferritins / blood Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Genetic Predisposition to Disease Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Genotype Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemochromatosis / blood Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemochromatosis / genetics Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemochromatosis Protein Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Histocompatibility Antigens Class I / genetics* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Histocompatibility Antigens Class I / metabolism Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Humans Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Iron / blood* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Iron Overload* / blood Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Iron Overload* / genetics Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Life Style* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Male Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Mediterranean Region Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Membrane Proteins / genetics* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Membrane Proteins / metabolism Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Middle Aged Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Mutation* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Polymorphism, Genetic* Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Spain Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Transferrin Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Young Adult Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

Substances

• HFE protein, human Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Hemochromatosis Protein Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Histocompatibility Antigens Class I Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Membrane Proteins Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Transferrin Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Ferritins Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search
• Iron Actions
  • Search in PubMed
  • Search in MeSH
  • Add to Search

Related information

• ClinVar
• Gene
• Gene (GeneRIF)
• MedGen
• Protein (RefSeq)
• PubChem Compound
• PubChem Compound (MeSH Keyword)
• PubChem Substance
• SNP

Grants and funding

• P60 MD000222/MD/NIMHD NIH HHS/United States
• IP60MD000222-03/IP/NCIRD CDC HHS/United States

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • Ovid Technologies, Inc.
  • PubMed Central
  • Springer

• Medical

  • MedlinePlus Health Information

Full text links [x] Springer Free PMC article [x] Cite Copy Download .nbib .nbib Format: AMA APA MLA NLM Send To

• Clipboard
• Email
• Save
• My Bibliography
• Collections
• Citation Manager

[x]

NCBI Literature Resources

MeSH PMC Bookshelf Disclaimer

The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Unauthorized use of these marks is strictly prohibited.