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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.
 
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
Elevated hepatic iron concentration
MedGen UID:
868497
Concept ID:
C4022891
Finding
An increased level of iron in liver tissues.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Increased circulating iron concentration
MedGen UID:
57739
Concept ID:
C0151900
Finding
The concentration of iron in the blood circulation is above the upper limit of normal.
Increased circulating ferritin concentration
MedGen UID:
69130
Concept ID:
C0241013
Finding
Increased concentration of ferritin in the blood circulation.
Elevated transferrin saturation
MedGen UID:
868498
Concept ID:
C4022892
Finding
An above normal level of saturation of serum transferrin with iron.
Abnormal circulating copper concentration
MedGen UID:
892610
Concept ID:
C4023689
Finding
An abnormal concentration of copper.
Abnormal circulating transferrin concentration
MedGen UID:
1694121
Concept ID:
C5139308
Finding
Any deviation from the normal concentration of transferrin in the blood circulation.
Abnormal circulating ceruloplasmin concentration
MedGen UID:
1726009
Concept ID:
C5421638
Finding
Any deviation of the concentration of ceruloplasmin in the blood from the normal range.

Term Hierarchy

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

Professional guidelines

PubMed

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
Camacho A, Funck-Brentano T, Simão M, Cancela L, Ottaviani S, Cohen-Solal M, Richette P
PLoS One 2015;10(3):e0122817. Epub 2015 Mar 30 doi: 10.1371/journal.pone.0122817. PMID: 25822977Free PMC Article
Shah HA, Jafri W, Malik I, Prescott L, Simmonds P
J Gastroenterol Hepatol 1997 Nov;12(11):758-61. doi: 10.1111/j.1440-1746.1997.tb00366.x. PMID: 9430043

Recent clinical studies

Etiology

Colucci S, Carvalho Oliveira T, Muckenthaler MU, Marques O
Am J Physiol Gastrointest Liver Physiol 2023 Nov 1;325(5):G453-G457. Epub 2023 Sep 5 doi: 10.1152/ajpgi.00085.2023. PMID: 37667844
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
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: 34601591Free PMC Article
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
Creighton Mitchell T, McClain DA
Curr Diab Rep 2014;14(5):488. doi: 10.1007/s11892-014-0488-y. PMID: 24682660

Diagnosis

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
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: 34601591Free PMC Article
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
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
Alexander J, Kowdley KV
Genet Med 2009 May;11(5):307-13. doi: 10.1097/GIM.0b013e31819d30f2. PMID: 19444013

Therapy

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
Wilman HR, Parisinos CA, Atabaki-Pasdar N, Kelly M, Thomas EL, Neubauer S; IMI DIRECT Consortium, Mahajan A, Hingorani AD, Patel RS, Hemingway H, Franks PW, Bell JD, Banerjee R, Yaghootkar H
J Hepatol 2019 Sep;71(3):594-602. Epub 2019 Jun 19 doi: 10.1016/j.jhep.2019.05.032. PMID: 31226389Free PMC Article
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
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
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

Barton JC, Barton JC, Acton RT
Hereditas 2022 Jun 6;159(1):25. doi: 10.1186/s41065-022-00237-w. PMID: 35659379Free PMC Article
Pilling LC, Tamosauskaite J, Jones G, Wood AR, Jones L, Kuo CL, Kuchel GA, Ferrucci L, Melzer D
BMJ 2019 Jan 16;364:k5222. doi: 10.1136/bmj.k5222. PMID: 30651232Free PMC Article
He M, Workalemahu T, Manson JE, Hu FB, Qi L
PLoS One 2012;7(7):e40919. Epub 2012 Jul 16 doi: 10.1371/journal.pone.0040919. PMID: 22815867Free PMC Article
Fregonese L, Stolk J
Orphanet J Rare Dis 2008 Jun 19;3:16. doi: 10.1186/1750-1172-3-16. PMID: 18565211Free PMC Article
Weinberg ED
Perspect Biol Med 2008 Winter;51(1):98-102. doi: 10.1353/pbm.2008.0001. PMID: 18192769

Clinical prediction guides

Colucci S, Carvalho Oliveira T, Muckenthaler MU, Marques O
Am J Physiol Gastrointest Liver Physiol 2023 Nov 1;325(5):G453-G457. Epub 2023 Sep 5 doi: 10.1152/ajpgi.00085.2023. PMID: 37667844
Barton JC, Barton JC, Acton RT
Hereditas 2022 Jun 6;159(1):25. doi: 10.1186/s41065-022-00237-w. PMID: 35659379Free PMC Article
Kaczorowska-Hac B, Luszczyk M, Antosiewicz J, Ziolkowski W, Adamkiewicz-Drozynska E, Mysliwiec M, Milosz E, Kaczor JJ
J Pediatr Hematol Oncol 2017 Jul;39(5):e240-e243. doi: 10.1097/MPH.0000000000000826. PMID: 28406842Free PMC Article
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
Weinberg ED
Perspect Biol Med 2008 Winter;51(1):98-102. doi: 10.1353/pbm.2008.0001. PMID: 18192769

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