Genetic and clinical heterogeneity of ferroportin disease

British Journal of Haematology

Volumn 131, Issue 5, 2005, Pages 663-670

  Cemonesi, Laura ^a   Forni, Gian Luca ^b   Soriani, Nadia ^a   Lamagna, Martina ^b   Fermo, Isabella ^a   Daraio, Filomena ^c   Galli, Anna ^d   Pietra, Daniela ^d   Malcovati, Luca ^d   Ferrari, Maurizio ^a   Camaschella, Clara ^e   Cazzola, Mario ^d,f  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Ferritin; Ferroportin; Hepcidin; Iron; SLC40A1

Indexed keywords

FERROPORTIN; HEPCIDIN; IRON BINDING PROTEIN; UNCLASSIFIED DRUG; ANTIMICROBIAL CATIONIC PEPTIDE; CATION TRANSPORT PROTEIN; FERRITIN; IRON; MESSENGER RNA; METAL TRANSPORTING PROTEIN 1;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DISORDER; CHILD; CHINESE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FAMILIAL DISEASE; FEMALE; FERROPORTIN DISEASE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GERM LINE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON OVERLOAD; LIVER; MALE; PARENCHYMA; PRIORITY JOURNAL; PROGENY; PROTEIN URINE LEVEL; RETICULOENDOTHELIAL SYSTEM; SLC40A1 GENE; URINARY EXCRETION; BLOOD; CHEMISTRY; CHINA; ETHNOLOGY; GENETICS; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ITALY; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; URINE;

ADOLESCENT; ADULT; ANTIMICROBIAL CATIONIC PEPTIDES; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CHILD; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FERRITINS; GENOTYPE; HEMOCHROMATOSIS; HUMANS; IRON; ITALY; LIVER; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT;

EID: 33644798951     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05815.x     Document Type: Article

References (38)

1. Abboud S. Haile D.J. ( 2000) A novel mammalian iron-regulated protein involved in intracellular iron metabolism. Journal of Biological Chemistry, 275, 19906 19912.
2. Adams P.C. Reboussin D.M. Barton J.C. McLaren C.E. Eckfeldt J.H. McLaren G.D. Dawkins F.W. Acton R.T. Harris E.L. Gordeuk V.R. Leiendecker-Foster C. Speechley M. Snively B.M. Holup J.L. Thomson E. Sholinsky P. ( 2005) Hemochromatosis and iron-overload screening in a racially diverse population. New England Journal of Medicine, 352, 1769 1778.
3. Aguilar-Martinez P. Schved J.F. Brissot P. ( 2005) The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. American Journal of Gastroenterology, 100, 1185 1194.
4. Arden K.E. Wallace D.F. Dixon J.L. Summerville L. Searle J.W. Anderson G.J. Ramm G.A. Powell L.W. Subramaniam V.N. ( 2003) A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut, 52, 1215 1217.
5. Beutler E. Barton J.C. Felitti V.J. Gelbart T. West C. Lee P.L. Waalen J. Vulpe C. ( 2003) Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells, Molecules, and Diseases, 31, 305 309.
6. Cazzola M. ( 2003) Genetic disorders of iron overload and the novel ''ferroportin disease''. Haematologica, 88, 721 724.
7. Cazzola M. Cremonesi L. Papaioannou M. Soriani N. Kioumi A. Charalambidou A. Paroni R. Romtsou K. Levi S. Ferrari M. Arosio P. Christakis J. ( 2002) Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). British Journal of Haematology, 119, 539 546.
8. Cremonesi L. Stenirri S. Fermo I. Paroni R. Ferrari M. Cazzola M. Arosio P. ( 2003) Denaturing HPLC analysis of DNA deletions and insertions. Human Mutation, 22, 98 102.
9. De Domenico I. Ward D.M. Nemeth E. Vaughn M.B. Musci G. Ganz T. Kaplan J. ( 2005) The molecular basis of ferroportin-linked hemochromatosis. Proceedings of the National Academy of Science United States of America, 102, 8955 8960.
10. Devalia V. Carter K. Walker A.P. Perkins S.J. Worwood M. May A. Dooley J.S. ( 2002) Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood, 100, 695 697.
11. Donovan A. Brownlie A. Zhou Y. Shepard J. Pratt S.J. Moynihan J. Paw B.H. Drejer A. Barut B. Zapata A. Law T.C. Brugnara C. Lux S.E. Pinkus G.S. Pinkus J.L. Kingsley P.D. Palis J. Fleming M.D. Andrews N.C. Zon L.I. ( 2000) Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature, 403, 776 781.
12. Drakesmith H. Schimanski L.M. Ormerod E. Merryweather-Clarke A.T. Viprakasit V. Edwards J.P. Sweetland E. Bastin J.M. Cowley D. Chinthammitr Y. Robson K.J. Townsend A.R. ( 2005) Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood, 106, 1092 1097.
13. Fraenkel P.G. Traver D. Donovan A. Zahrieh D. Zon L.I. ( 2005) Ferroportin1 is required for normal iron cycling in zebrafish. Journal of Clinical Investigation, 115, 1532 1541.
14. Galli A. Bergamaschi G. Recalde H. Biasiotto G. Santambrogio P. Boggi S. Levi S. Arosio P. Cazzola M. ( 2004) Ferroportin gene silencing induces iron retention and enhances ferritin synthesis in human macrophages. British Journal of Haematology, 127, 598 603.
15. Gordeuk V.R. Caleffi A. Corradini E. Ferrara F. Jones R.A. Castro O. Onyekwere O. Kittles R. Pignatti E. Montosi G. Garuti C. Gangaidzo I.T. Gomo Z.A. Moyo V.M. Rouault T.A. MacPhail P. Pietrangelo A. ( 2003) Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells, Molecules, and Diseases, 31, 299 304.
16. Hetet G. Devaux I. Soufir N. Grandchamp B. Beaumont C. ( 2003) Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood, 102, 1904 1910.
17. Jouanolle A.M. Douabin-Gicquel V. Halimi C. Loreal O. Fergelot P. Delacour T. de Lajarte-Thirouard A.S. Turlin B. Le Gall J.Y. Cadet E. Rochette J. David V. Brissot P. ( 2003) Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. Journal of Hepatology, 39, 286 289.
18. Knutson M.D. Vafa M.R. Haile D.J. Wessling-Resnick M. ( 2003) Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages. Blood, 102, 4191 4197.
19. Knutson M.D. Oukka M. Koss L.M. Aydemir F. Wessling-Resnick M. ( 2005) Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. Proceedings of the National Academy of Science United States of America, 102, 1324 1328.
20. Kohgo Y. ( 2005) A novel ferroportin disease in a Japanese patient. Internal Medicine, 44, 393 394.
21. Lee P. Gelbart T. West C. Halloran C. Beutler E. ( 2002) Seeking candidate mutations that affect iron homeostasis. Blood Cells, Molecules, and Diseases, 29, 471 487.
22. McKie A.T. Marciani P. Rolfs A. Brennan K. Wehr K. Barrow D. Miret S. Bomford A. Peters T.J. Farzaneh F. Hediger M.A. Hentze M.W. Simpson R.J. ( 2000) A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Molecular Cell, 5, 299 309.
23. Montosi G. Donovan A. Totaro A. Garuti C. Pignatti E. Cassanelli S. Trenor C.C. Gasparini P. Andrews N.C. Pietrangelo A. ( 2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. Journal of Clinical Investigation, 108, 619 623.
24. Morris T.J. Litvinova M.M. Ralston D. Mattman A. Holmes D. Lockitch G. ( 2005) A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis. Blood Cells, Molecules, and Diseases Epub ahead of print DOI:10.1016/j.bcmd.2005.07.007.
25. Nemeth E. Valore E.V. Territo M. Schiller G. Lichtenstein A. Ganz T. ( 2003) Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood, 101, 2461 2463.
26. Nemeth E. Tuttle M.S. Powelson J. Vaughn M.B. Donovan A. Ward D.M. Ganz T. Kaplan J. ( 2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science, 306, 2090 2093.
27. Nemeth E. Roetto A. Garozzo G. Ganz T. Camaschella C. ( 2005) Hepcidin is decreased in TFR2 hemochromatosis. Blood, 105, 1803 1806.
28. Njajou O.T. Vaessen N. Joosse M. Berghuis B. van Dongen J.W. Breuning M.H. Snijders P.J. Rutten W.P. Sandkuijl L.A. Oostra B.A. van Duijn C.M. Heutink P. ( 2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nature Genetics, 28, 213 214.
29. Papanikolaou G. Tzilianos M. Christakis J.I. Bogdanos D. Tsimirika K. MacFarlane J. Goldberg Y.P. Sakellaropoulos N. Ganz T. Nemeth E. ( 2005) Hepcidin in iron overload disorders. Blood, 105, 4103 4105.
30. Pietrangelo A. ( 2004) The ferroportin disease. Blood Cells, Molecules, and Diseases, 32, 131 138.
31. Rivard S.R. Lanzara C. Grimard D. Carella M. Simard H. Ficarella R. Simard R. D'Adamo A.P. De Braekeleer M. Gasparini P. ( 2003) Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin1 gene (SLC11A3) in a large French-Canadian family. Haematologica, 88, 824 826.
32. Roetto A. Merryweather-Clarke A.T. Daraio F. Livesey K. Pointon J.J. Barbabietola G. Piga A. Mackie P.H. Robson K.J. Camaschella C. ( 2002) A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood, 100, 733 734.
33. Schimanski L.M. Drakesmith H. Merryweather-Clarke A.T. Viprakasit V. Edwards J.P. Sweetland E. Bastin J.M. Cowley D. Chinthammitr Y. Robson K.J. Townsend A.R. ( 2005) In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood, 105, 4096 4102.
34. Sham R.L. Phatak P.D. West C. Lee P. Andrews C. Beutler E. ( 2005) Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells, Molecules, and Diseases, 34, 157 161.
35. Subramaniam V.N. Wallace D.F. Dixon J.L. Fletcher L.M. Crawford D.H. ( 2005) Ferroportin disease due to the A77D mutation in Australia. Gut, 54, 1048 1049.
36. Wallace D.F. Pedersen P. Dixon J.L. Stephenson P. Searle J.W. Powell L.W. Subramaniam V.N. ( 2002) Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood, 100, 692 694.
37. Wallace D.F. Clark R.M. Harley H.A. Subramaniam V.N. ( 2004) Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. Journal of Hepatology, 40, 710 713.
38. Wallace D.F. Browett P. Wong P. Kua H. Ameratunga R. Subramaniam V.N. ( 2005) Identification of ferroportin disease in the Indian subcontinent. Gut, 54, 567 568.