Albertine Donker
Rare Inherited Iron and Heme-related Anemias 133 3 REFERENCES 1. Subramaniam VN, Wallace DF, Dixon JL, Fletcher LM, Crawford DH. Ferroportin disease due to the A77D mutation in Australia. Gut. 2005;54(7):1048-1049. 2. Corradini E, Montosi G, Ferrara F, et al. Lack of enterocyte iron accumulation in the ferroportin disease. Blood Cells Mol Dis. 2005;35(3):315-318. 3. Cazzola M, Cremonesi L, Papaioannou M, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol. 2002;119(2):539-546. 4. Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood. 2002;100(2):733-734. 5. Lok CY, Merryweather-Clarke AT, Viprakasit V, et al. Iron overload in the Asian community. Blood. 2009;114(1):20-25. 6. Lee PL, Gelbart T, West C, Barton JC. SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype. Acta Haematol. 2007;118(4):237- 241. 7. Pelucchi S, Mariani R, Salvioni A, et al. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload. Clin Genet. 2008;73(2):171-178. 8. Lim FL, Dooley JS, Roques AW, Grellier L, Dhillon AP, Walker AP. Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del “loss of function” mutations in ferroportin disease. Blood Cells Mol Dis. 2008;40(3):328-333. 9. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341(10):725-732. 10. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001;108(4):619- 623. 11. De Domenico I, McVey Ward D, Nemeth E, et al. Molecular and clinical correlates in iron overload associated with mutations in ferroportin. Haematologica. 2006;91(8):1092- 1095. 12. Liu W, Shimomura S, Imanishi H, et al. Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern Med. 2005;44(4):285-289. 13. Zoller H, McFarlane I, Theurl I, et al. Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. Hepatology. 2005;42(2):466-472. 14. Papanikolaou G, Tzilianos M, Christakis JI, et al. Hepcidin in iron overload disorders. Blood. 2005;105(10):4103-4105. 15. Del-Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, et al. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. Gene. 2012;508(1):15- 20. 16. Caetano G, Relvas L, Bento C, Silveira MP, Ribeiro L. Atypical iron deficiency anemia - association of two new mutations in ferroportin and TMPRSS6 genes. Intern Biolron Soc Meeting. 2009:7-11. 17. Lee PL, Gaasterland T, Barton JC. Mild iron overload in an African American man with SLC40A1 D270V. Acta Haematol. 2012;128(1):28-32. 18. Jouanolle AM, Douabin-Gicquel V, Halimi C, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol. 2003;39(2):286-289. 19. Letocart E, Le Gac G, Majore S, et al. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the
Made with FlippingBook
RkJQdWJsaXNoZXIy ODAyMDc0