Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease

Blood Cells, Molecules, and Diseases

Volumn 37, Issue 3, 2006, Pages 192-196

  Pietrangelo, Antonello ^a   Corradini, Elena ^a   Ferrara, Francesca ^a   Vegetti, Alberto ^a   De Jong, Gerard ^b   Luca Abbati, Gian ^a   Paolo Arcuri, Pier ^a   Martinelli, Sara ^a   Cerofolini, Emilio ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Ferroportin; Hemochromatosis; HFE; Iron overload; Magnetic resonance imaging

Indexed keywords

FERROPORTIN; IRON; IRON REGULATORY FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOACCUMULATION; BIOLOGICAL MONITORING; BONE; BONE MARROW; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; FEMALE; FERRITIN BLOOD LEVEL; FERROPORTIN DISEASE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IN VIVO STUDY; IRON DEPLETION; IRON OVERLOAD; LIVER CELL; LIVER LEVEL; MACROPHAGE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOOL CHILD; SPINE; SPLEEN;

ADOLESCENT; ADULT; AGED, 80 AND OVER; CATION TRANSPORT PROTEINS; CHILD; FEMALE; FERRITINS; HUMANS; IRON; IRON OVERLOAD; MAGNETIC RESONANCE IMAGING; MALE; METAL METABOLISM, INBORN ERRORS; MIDDLE AGED; MUTATION, MISSENSE; SPINE; SPLEEN;

EID: 33750807058     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.08.007     Document Type: Article

References (26)

1. Pietrangelo A., Montosi G., Totaro A., et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N. Engl. J. Med. 341 (1999) 725-732
2. Montosi G., Donovan A., Totaro A., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J. Clin. Invest. 108 (2001) 619-623
3. Devalia V., Carter K., Walker A.P., et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 100 (2002) 695-697
4. Wallace D.F., Pedersen P., Dixon J.L., et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 100 (2002) 692-694
5. Hetet G., Devaux I., Soufir N., et al. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 102 (2003) 1904-1910
6. Arden K.E., Wallace D.F., Dixon J.L., et al. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut 52 (2003) 1215-1217
7. Jouanolle A.M., Douabin-Gicquel V., Halimi C., et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J. Hepatol. 39 (2003) 286-289
8. Rivard S.R., Lanzara C., Grimard D., et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica 88 (2003) 824-826
9. Cremonesi L., Forni G.L., Soriani N., et al. Genetic and clinical heterogeneity of ferroportin disease. Br. J. Haematol. 131 (2005) 663-670
10. Liu W., Shimomura S., Imanishi H., et al. Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern. Med. 44 (2005) 285-289
11. Subramaniam V.N., Wallace D.F., Dixon J.L., et al. Ferroportin disease due to the A77D mutation in Australia. Gut 54 (2005) 1048-1049
12. Koyama C., Hayashi H., Wakusawa S., et al. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J. Hepatol. 43 (2005) 740-742
13. Bach V., Remacha A., Altes A., et al. Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain. Blood Cells Mol. Dis. 36 (2006) 41-45
14. Njajou O.T., Vaessen N., Joosse M., et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat. Genet. 28 (2001) 213-214
15. Wallace D.F., Clark R.M., Harley H.A., and Subramaniam V.N. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J. Hepatol. 40 (2004) 710-713
16. Sham R.L., Phatak P.D., West C., et al. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol. Dis. 34 (2005) 157-161
17. Pietrangelo A. The ferroportin disease. Blood Cells Mol. Dis. 32 (2004) 131-138
18. Drakesmith H., Schimanski L.M., Ormerod E., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 106 (2005) 1092-1097
19. Schimanski L.M., Drakesmith H., Merryweather-Clarke A.T., et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 105 (2005) 4096-4102
20. De Domenico I., Ward D.M., Nemeth E., et al. The molecular basis of ferroportin-linked hemochromatosis. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 8955-8960
21. McGregor J.A., Shayeghi M., Vulpe C.D., et al. Impaired iron transport activity of ferroportin 1 in hereditary iron overload. J. Membr. Biol. 206 (2005) 3-7
22. Liu X.B., Yang F., and Haile D.J. Functional consequences of ferroportin 1 mutations. Blood Cells Mol. Dis. 35 (2005) 33-46
23. Goncalves A.S., Muzeau F., Blaybel R., et al. Wild-type and mutant ferroportins do not form oligomers in transfected cells. Biochem. J. 396 (2006) 265-275
24. Gandon Y., Olivie D., Guyader D., et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 363 (2004) 357-362
25. Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306 (2004) 2090-2093
26. De Domenico I., Ward D.M., Nemeth E., et al. Molecular and clinical correlates in iron overload associated with mutations in ferroportin. Haematologica 91 (2006) 1092-1095