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Hemochromatosis type 5(HFE5)

MedGen UID:
341982
•Concept ID:
C1851316
•
Disease or Syndrome
Synonym: Iron overload, autosomal dominant
SNOMED CT: FTH1-associated iron overload (1230310007); Ferritin heavy chain 1-related iron overload (1230310007); FTH1-related iron overload (1230310007); FTH1 (ferritin heavy chain 1) related iron overload (1230310007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): FTH1 (11q12.3)
 
Monarch Initiative: MONDO:0014225
OMIM®: 615517
Orphanet: ORPHA247790

Definition

A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities. [from SNOMEDCT_US]

Clinical features

From HPO
Increased circulating ferritin concentration
MedGen UID:
69130
•Concept ID:
C0241013
•
Finding
Increased concentration of ferritin in the blood circulation.
See: Feature record | Search on this feature

Term Hierarchy

Follow this link to review classifications for Hemochromatosis type 5 in Orphanet.

Professional guidelines

PubMed

Risk of Hepatocellular Carcinoma in Patients with Various HFE Genotypes.
Natarajan Y, Patel P, Chu J, Yu X, Hernaez R, El-Serag H, Kanwal F
Dig Dis Sci 2023 Jan;68(1):312-322. Epub 2022 Jul 5 doi: 10.1007/s10620-022-07602-9. PMID: 35790703
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J
Orphanet J Rare Dis 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y. PMID: 34583728Free PMC Article
Genetic testing in the European Union: does economic evaluation matter?
Antoñanzas F, Rodríguez-Ibeas R, Hutter MF, Lorente R, Juárez C, Pinillos M
Eur J Health Econ 2012 Oct;13(5):651-61. Epub 2011 May 20 doi: 10.1007/s10198-011-0319-x. PMID: 21598012

Recent clinical studies

Etiology

Hereditary hemochromatosis: data from a single center Copenhagen cohort.
Therkildsen R, Dahl EE, Schiødt FV
Scand J Gastroenterol 2022 Aug;57(8):972-977. Epub 2022 Mar 7 doi: 10.1080/00365521.2022.2042591. PMID: 35249441
Hemochromatosis classification: update and recommendations by the BIOIRON Society.
Girelli D, Busti F, Brissot P, Cabantchik I, Muckenthaler MU, Porto G
Blood 2022 May 19;139(20):3018-3029. doi: 10.1182/blood.2021011338. PMID: 34601591
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J
Orphanet J Rare Dis 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y. PMID: 34583728Free PMC Article
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Diabetes and hemochromatosis.
Creighton Mitchell T, McClain DA
Curr Diab Rep 2014;14(5):488. doi: 10.1007/s11892-014-0488-y. PMID: 24682660

Diagnosis

Hereditary hemochromatosis: data from a single center Copenhagen cohort.
Therkildsen R, Dahl EE, Schiødt FV
Scand J Gastroenterol 2022 Aug;57(8):972-977. Epub 2022 Mar 7 doi: 10.1080/00365521.2022.2042591. PMID: 35249441
Hemochromatosis classification: update and recommendations by the BIOIRON Society.
Girelli D, Busti F, Brissot P, Cabantchik I, Muckenthaler MU, Porto G
Blood 2022 May 19;139(20):3018-3029. doi: 10.1182/blood.2021011338. PMID: 34601591
Juvenile haemochromatosis.
Griffiths WJH, Besser M, Bowden DJ, Kelly DA
Lancet Child Adolesc Health 2021 Jul;5(7):524-530. Epub 2021 Apr 15 doi: 10.1016/S2352-4642(20)30392-8. PMID: 33861982
HFE-associated hereditary hemochromatosis.
Alexander J, Kowdley KV
Genet Med 2009 May;11(5):307-13. doi: 10.1097/GIM.0b013e31819d30f2. PMID: 19444013
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT, Milward EA, Chua AC, Trinder D, Olynyk JK
Crit Rev Clin Lab Sci 2008;45(5):451-84. doi: 10.1080/10408360802335716. PMID: 18712630

Therapy

Hemochromatosis Gene Mutation in Persons Developing Erythrocytosis on Combined Testosterone and SGLT-2 Inhibitor Therapy.
Schumacher KA, Gosmanov AR
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221111774. doi: 10.1177/23247096221111774. PMID: 35848311Free PMC Article
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Prenatal iron exposure and childhood type 1 diabetes.
Størdal K, McArdle HJ, Hayes H, Tapia G, Viken MK, Lund-Blix NA, Haugen M, Joner G, Skrivarhaug T, Mårild K, Njølstad PR, Eggesbø M, Mandal S, Page CM, London SJ, Lie BA, Stene LC
Sci Rep 2018 Jun 13;8(1):9067. doi: 10.1038/s41598-018-27391-4. PMID: 29899542Free PMC Article
Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-analysis.
Rong Y, Bao W, Rong S, Fang M, Wang D, Yao P, Hu FB, Liu L
Am J Epidemiol 2012 Sep 15;176(6):461-72. Epub 2012 Aug 19 doi: 10.1093/aje/kws126. PMID: 22908207
Role of L-type Ca2+ channels in iron transport and iron-overload cardiomyopathy.
Oudit GY, Trivieri MG, Khaper N, Liu PP, Backx PH
J Mol Med (Berl) 2006 May;84(5):349-64. Epub 2006 Apr 8 doi: 10.1007/s00109-005-0029-x. PMID: 16604332Free PMC Article

Prognosis

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.
Barton JC, Barton JC, Acton RT
Hereditas 2022 Jun 6;159(1):25. doi: 10.1186/s41065-022-00237-w. PMID: 35659379Free PMC Article
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G
Blood Cells Mol Dis 2021 Mar;87:102527. Epub 2020 Dec 8 doi: 10.1016/j.bcmd.2020.102527. PMID: 33341511
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Prenatal iron exposure and childhood type 1 diabetes.
Størdal K, McArdle HJ, Hayes H, Tapia G, Viken MK, Lund-Blix NA, Haugen M, Joner G, Skrivarhaug T, Mårild K, Njølstad PR, Eggesbø M, Mandal S, Page CM, London SJ, Lie BA, Stene LC
Sci Rep 2018 Jun 13;8(1):9067. doi: 10.1038/s41598-018-27391-4. PMID: 29899542Free PMC Article
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.
Fregonese L, Stolk J
Orphanet J Rare Dis 2008 Jun 19;3:16. doi: 10.1186/1750-1172-3-16. PMID: 18565211Free PMC Article

Clinical prediction guides

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.
Barton JC, Barton JC, Acton RT
Hereditas 2022 Jun 6;159(1):25. doi: 10.1186/s41065-022-00237-w. PMID: 35659379Free PMC Article
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G
Blood Cells Mol Dis 2021 Mar;87:102527. Epub 2020 Dec 8 doi: 10.1016/j.bcmd.2020.102527. PMID: 33341511
Diagnostic morphology: biophysical indicators for iron-driven inflammatory diseases.
Pretorius E, Kell DB
Integr Biol (Camb) 2014 May;6(5):486-510. doi: 10.1039/c4ib00025k. PMID: 24714688
Porphyria cutanea tarda--when skin meets liver.
Frank J, Poblete-Gutiérrez P
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. PMID: 20955974
Interrelationships between circulating gastrin and iron status in mice and humans.
Kovac S, Smith K, Anderson GJ, Burgess JR, Shulkes A, Baldwin GS
Am J Physiol Gastrointest Liver Physiol 2008 Oct;295(4):G855-61. Epub 2008 Aug 28 doi: 10.1152/ajpgi.90359.2008. PMID: 18755804Free PMC Article

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