Hereditary Hemochromatosis Due to Resistance to Hepcidin: High Hepcidin Concentrations in a Family with C326S Ferroportin Mutation

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2009 Jul 11

PMID 19589941

Citations 28

Authors

Ronald L Sham

Pradyumna D Phatak

Elizabeta Nemeth

Tomas Ganz

Affiliations

Soon will be listed here.

Citing Articles

Primary Non-HFE Hemochromatosis: A Review.

Turshudzhyan A, Wu D, Wu G J Clin Transl Hepatol. 2023; 11(4):925-931.

PMID: 37408807 PMC: 10318284. DOI: 10.14218/JCTH.2022.00373.

Clinical interpretation of serum hepcidin-25 in inflammation and renal dysfunction.

Chen M, Kuehne N, Mattman A, Liu J, van der Gugten G, Wright B J Mass Spectrom Adv Clin Lab. 2022; 24:43-49.

PMID: 35403094 PMC: 8983384. DOI: 10.1016/j.jmsacl.2022.03.002.

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.

Kowdley D, Kowdley K Appl Clin Genet. 2021; 14:353-361.

PMID: 34413666 PMC: 8369226. DOI: 10.2147/TACG.S269622.

Rapid removal of phagosomal ferroportin in macrophages contributes to nutritional immunity.

Flannagan R, Farrell T, Trothen S, Dikeakos J, Heinrichs D Blood Adv. 2021; 5(2):459-474.

PMID: 33496744 PMC: 7839378. DOI: 10.1182/bloodadvances.2020002833.

Hirschsprung's disease presenting as intractable anemia: a report of two cases and review of the literature.

Sun X, Chu J, Li C, Deng Z BMC Pediatr. 2020; 20(1):525.

PMID: 33190630 PMC: 7667768. DOI: 10.1186/s12887-020-02423-z.

References

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Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C . Hepcidin is decreased in TFR2 hemochromatosis. Blood. 2004; 105(4):1803-6. DOI: 10.1182/blood-2004-08-3042. View

Papanikolaou G, Samuels M, Ludwig E, Macdonald M, Franchini P, Dube M . Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2003; 36(1):77-82. DOI: 10.1038/ng1274. View

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Pietrangelo A . The ferroportin disease. Blood Cells Mol Dis. 2004; 32(1):131-8. DOI: 10.1016/j.bcmd.2003.08.003. View

Fernandes A, Preza G, Phung Y, De Domenico I, Kaplan J, Ganz T . The molecular basis of hepcidin-resistant hereditary hemochromatosis. Blood. 2009; 114(2):437-43. PMC: 2714214. DOI: 10.1182/blood-2008-03-146134. View

Sham R, Phatak P, West C, Lee P, Andrews C, Beutler E . Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis. 2005; 34(2):157-61. DOI: 10.1016/j.bcmd.2004.12.002. View

Ganz T . Molecular control of iron transport. J Am Soc Nephrol. 2007; 18(2):394-400. DOI: 10.1681/ASN.2006070802. View

Nemeth E, Tuttle M, Powelson J, Vaughn M, Donovan A, Ward D . Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 2004; 306(5704):2090-3. DOI: 10.1126/science.1104742. View

10.

Donovan A, Lima C, Pinkus J, Pinkus G, Zon L, Robine S . The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab. 2005; 1(3):191-200. DOI: 10.1016/j.cmet.2005.01.003. View

11.

Ganz T, Olbina G, Girelli D, Nemeth E, Westerman M . Immunoassay for human serum hepcidin. Blood. 2008; 112(10):4292-7. DOI: 10.1182/blood-2008-02-139915. View