Hemochromatosis: Etiopathogenesis, diagnosis and therapeutic strategy;Hemocromatosis: Etiopatogenia, diagnóstico y estrategia terapéutica

Medicine

Volumn 10, Issue 19, 2008, Pages 1253-1262

  Del Castillo Rueda, A ^a  

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 60049085315     PISSN: 03045412     EISSN: 15788822     Source Type: Journal    
DOI: 10.1016/S0211-3449(08)73238-7     Document Type: Article

References (42)

1. De Domenico I, McVey Ward D, Kaplan J. Regulation of iron acquisition and storage: consequences for iron-linked disorders. Nat Rev Mol Cell Biol. 2008;9:72-81.
2. Fleming RE, Bacon BR. Orchestration of iron homeostasis. N Engl J Med. 2005;352:1741-4.
3. •• Rosemberg W. Haemochromatosis. Medicine. 2007;35:89-92.
4. Del Castillo Rueda A, De Portugal Álvarez J. Trastornos del metabolismo del hierro y el cobre. En: Perezagua Clamagirand C, editor. Tratado de Medicina Interna. Barcelona: Ariel; 2005. p. 2626-40.
5. Del Castillo Rueda A, De Portugal Álvarez J. Hepcidina, una nueva proteína en la homeostasis del hierro. An Med Interna (Madrid). 2003; 20:605-6.
6. Sullivan JI. Macrophage iron, hepcidin, and atherosclerotic plaque stability. Exp Biol Med. 2007;232:1014-20.
7. •• Pietrangelo A. Hemochromatosis: an endocrine liver disease. Hepatology. 2007;46:1291-301.
8. Barton JC. A brief history of hemochromatosis. En: Barton JC, Edwards CQ, editores. Hemochromatosis. Cambridge University Press; 2000; p. 3-7.
9. Sheldon JH. Haemochromatosis. London: Oxford University Press; 1935.
10. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis. Demostration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977;297:1017-21.
11. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996:13:399-408.
12. • Pietrangelo A. Hereditary hemochromatosis- A new look at an old disease. N Engl J Med. 2004;350:2383-97.
13. Del Castillo Rueda A, López-Herce Cid JA, De Portugal Álvarez J. Hemocromatosis hereditaria. Diagnóstico clínico: manifestaciones precoces, procesos relacionados y formas atípicas. An Med Interna (Madrid). 2002;19:251-6.
14. Griffiths WJH. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther. 2007;26:331-42.
15. Swinkels DW, Janssen MC, Bergmans J, Marx JJ. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem. 2006;52:950-68.
16. Delaby C, Deybach JC, Beaumont C. L'hepcidine et le métabolisme du fer. Rev Med Interne. 2007;28:510-2.
17. • Andrews NC, Schmidt PJ. Iron homeostais. Ann Rev Physiol. 2007;69:69-85.
18. Babitt JL, Huang FW, Xia Y, Sidis Y, Andrews NC, Lin HY. Modulation of bone morphogenetic protein signalling in vivo regulates systemic iron balance. J Clin Invest. 2007;117:1933-9.
19. Pietrangelo A. Hereditary hemochromatosis. Biochim Biophys Acta. 2006;1763:700-10.
20. Brandao M, Oliveira JC, Bravo F, Reis J, Garrido I, Porto G. The soluble transferrin receptor as a marker of iron homeostasis in normal subjects and in HFE-related hemochromatosis. Haematologica. 2005;1:31-7.
21. Beguin Y. Soluble transferrin receptor for the evaluation of erythropoiesis and iron status. Clin Chim Acta. 2003;329:9-22.
22. Cabantchik ZI, Breuer W, Zanninelli G, Cianciulli P. LPI-labile plasma iron in iron overload. Best Pract Res Clin Haematol. 2005;18:277-87.
23. Ganz T. Hepcidin-a regulador of intestinal iron absorption and iron recycling by macrophages. Best Pract Res Clin Haematol. 2005;18:171-82.
24. Kemna EHJM, Tjalsma H, Willems HL, Swinkels DW. Hepcidin: from discovery to differential diagnosis. Haematologica. 2008;93:90-7.
25. Bacon BR, Britton RS. Clinical penetrance of hereditary hemochromatosis. N Engl J Med. 2008;358:291-2.
26. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999;341:718-24.
27. Tavill AS. Clinical implications of the hemochromatosis. N Engl J Med. 2000;341:755-6.
28. Ayonrinde OT, Olynyk JK. Clinical expresion of hemochromatosis gene (HFE) variants. Hepatology. 2007:46:960-2.
29. Pascual T, De Paula M, González J, Miravalles E. Saturación de la transferrina en el algoritmo diagnóstico de la hemocromatosis hereditaria. Med Clin (Barc). 2006;126:516.
30. Koorts AM, Viljoen M. Ferritin and ferritin isoforms I: structure-function relationships, synthesis, degradation and secretion. Arch Physiol Biochem. 2007;113:30-54.
31. •• Adams PC, Barton JC. Haemochromatosis. Lancet. 2007;370: 1855-60.
32. Villegas A. Nuevas perspectivas terapéuticas en la sobrecarga de hierro. An Med Interna (Madrid). 2006;23:511-2.
33. Alústiza JM, Castiella A, De Juan MD, Emparanza JI, Artetxe J, Uranga M. Iron overload in the liver diagnostic and quantification. Eur J Radiol 2007;61:499-506.
34. • McDonnell SM, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, et al. A survey of 2.851 patients with hemochromatosis: symptoms and response to treatment. Am J Med. 1999;106:619-24.
35. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110:1107-19.
36. Villafruela Cives M, Vázquez Romero M, Foruny Olcina JR, Boixeda de Miquel D. La hemocromatosis como polémica fuente de donación de sangre. Med Clin (Barc). 2007;128:515.
37. Beutler E. Iron storage: facts, fiction and progress. Blood Cells Mol Dis. 2007;39:140-7.
38. Fernández-Mosteirín N, Salvador-Osuna C, García-Erce JA, Orna E, Pérez-Lungmus G, Giralt M. Comparación de la flebotomía con eritrocitaféresis en la sobrecarga de hierro en portadores de mutaciones del gen HFE. Med Clin (Barc). 2006;127:409-12.
39. Nielsen P, Fischer R, Buggisch P, Janka-Schaub G. Effective treatment of hereditary haemochromatosis with desferrioxamine in selected cases. Br J Haematol. 2003;123:952-3.
40. ClinicalTrials.gov. Safety and efficacy of deferasirox (ICL670) in patients with iron overload resulting from hereditary hemochromatosis. Clinical-Trials.gov Identifier: NCT00395629.
41. www.ncbi.nlm.nih.gov/Genbank/index.html
42. www.ncbi.nlm.nih.gov/omim