U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HFE-Associated Hereditary Hemochromatosis

MedGen UID:
417706
•Concept ID:
C2827503
•
Disease or Syndrome

Definition

A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHFE-Associated Hereditary Hemochromatosis

Professional guidelines

PubMed

HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings.
Emanuele D, Tuason I, Edwards QT
J Am Assoc Nurse Pract 2014 Mar;26(3):113-22. Epub 2014 Feb 5 doi: 10.1002/2327-6924.12106. PMID: 24574363

Recent clinical studies

Etiology

Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile.
Grønlien HK, Christoffersen TE, Nystrand CF, Garabet L, Syvertsen T, Moe MK, Olstad OK, Jonassen CM
Acta Haematol 2021;144(4):446-457. Epub 2020 Dec 16 doi: 10.1159/000511551. PMID: 33326952Free PMC Article
HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings.
Emanuele D, Tuason I, Edwards QT
J Am Assoc Nurse Pract 2014 Mar;26(3):113-22. Epub 2014 Feb 5 doi: 10.1002/2327-6924.12106. PMID: 24574363
Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E
Genet Test Mol Biomarkers 2012 Jul;16(7):656-60. Epub 2012 Feb 24 doi: 10.1089/gtmb.2011.0204. PMID: 22364140
Increased duodenal DMT-1 expression and unchanged HFE mRNA levels in HFE-associated hereditary hemochromatosis and iron deficiency.
Byrnes V, Barrett S, Ryan E, Kelleher T, O'Keane C, Coughlan B, Crowe J
Blood Cells Mol Dis 2002 Nov-Dec;29(3):251-60. doi: 10.1006/bcmd.2002.0554. PMID: 12547214
Morbidity risk in HFE associated hereditary hemochromatosis C282Y heterozygotes.
Fuchs J, Podda M, Packer L, Kaufmann R
Toxicology 2002 Nov 15;180(2):169-81. doi: 10.1016/s0300-483x(02)00389-x. PMID: 12324192

Diagnosis

Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E
Genet Test Mol Biomarkers 2012 Jul;16(7):656-60. Epub 2012 Feb 24 doi: 10.1089/gtmb.2011.0204. PMID: 22364140
HFE-associated hereditary hemochromatosis.
Alexander J, Kowdley KV
Genet Med 2009 May;11(5):307-13. doi: 10.1097/GIM.0b013e31819d30f2. PMID: 19444013
HFE-associated hereditary hemochromatosis.
Eijkelkamp EJ, Yapp TR, Powell LW
Can J Gastroenterol 2000 Feb;14(2):121-5. doi: 10.1155/2000/360372. PMID: 10694284

Therapy

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH
BMC Pediatr 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4. PMID: 32414353Free PMC Article
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
Allen KJ, Bertalli NA, Osborne NJ, Constantine CC, Delatycki MB, Nisselle AE, Nicoll AJ, Gertig DM, McLaren CE, Giles GG, Hopper JL, Anderson GJ, Olynyk JK, Powell LW, Gurrin LC; HealthIron Study Investigators
Hepatology 2010 Sep;52(3):925-33. doi: 10.1002/hep.23786. PMID: 20583211Free PMC Article

Prognosis

HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
Allen KJ, Bertalli NA, Osborne NJ, Constantine CC, Delatycki MB, Nisselle AE, Nicoll AJ, Gertig DM, McLaren CE, Giles GG, Hopper JL, Anderson GJ, Olynyk JK, Powell LW, Gurrin LC; HealthIron Study Investigators
Hepatology 2010 Sep;52(3):925-33. doi: 10.1002/hep.23786. PMID: 20583211Free PMC Article
Expression of the HFE hemochromatosis gene in a community-based population of elderly women.
Rossi E, Kuek C, Beilby JP, Jeffrey GP, Devine A, Prince RL
J Gastroenterol Hepatol 2004 Oct;19(10):1150-4. doi: 10.1111/j.1440-1746.2004.03436.x. PMID: 15377292
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
HFE-associated hereditary hemochromatosis.
Eijkelkamp EJ, Yapp TR, Powell LW
Can J Gastroenterol 2000 Feb;14(2):121-5. doi: 10.1155/2000/360372. PMID: 10694284

Clinical prediction guides

Cytokine and Gene Expression Profiling in Patients with HFE-Associated Hereditary Hemochromatosis according to Genetic Profile.
Grønlien HK, Christoffersen TE, Nystrand CF, Garabet L, Syvertsen T, Moe MK, Olstad OK, Jonassen CM
Acta Haematol 2021;144(4):446-457. Epub 2020 Dec 16 doi: 10.1159/000511551. PMID: 33326952Free PMC Article
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH
BMC Pediatr 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4. PMID: 32414353Free PMC Article
Increased duodenal DMT-1 expression and unchanged HFE mRNA levels in HFE-associated hereditary hemochromatosis and iron deficiency.
Byrnes V, Barrett S, Ryan E, Kelleher T, O'Keane C, Coughlan B, Crowe J
Blood Cells Mol Dis 2002 Nov-Dec;29(3):251-60. doi: 10.1006/bcmd.2002.0554. PMID: 12547214
Rare causes of hereditary iron overload.
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Morbidity risk in HFE associated hereditary hemochromatosis C282Y heterozygotes.
Fuchs J, Podda M, Packer L, Kaufmann R
Toxicology 2002 Nov 15;180(2):169-81. doi: 10.1016/s0300-483x(02)00389-x. PMID: 12324192

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...