Iron overlo ad –  recent advances in pathogenesis and tre atment

Authors: J. Čermák 1,2
Authors‘ workplace: Ústav hematologi e a krevní transfuze Praha, zastupující ředitel prof. Ing. Jan E. Dyr, DrSc., 2Česká hematologická společnost České lékařské společnosti J. E. Purkyně, předseda doc. MUDr. Jaroslav Čermák, CSc. 1
Published in: Vnitř Lék 2009; 55(Suppl 1)(Supplementum 1): 59-63


Iron overlo ad may result as a consequence of incre ased iron income or deffective iron utilizati on. The most common re ason in o ur regi on is hereditary hemochromatosis or red blo od cell transfusi ons dependent anemi as with a high rate of ineffective erythropo i esis (eg. myelodysplastic syndrome). A key moment for the development of the toxicity ca used by iron overlo ad is incre ased iron rele ase into circulati on. An exceeded transferrin saturati on le ads to incre ased amo unt of non‑transferrin bo und iron in circulati on and one of its components, so called labile plasmatic iron may initi ate lipid peroxidati on resulting in cellular destructi on. Basic laboratory investigati ons for the di agnosis of iron overlo ad are serum ferritin and transferrin saturati on. NMR of liver or myocardi um serves as a useful to ol for non‑invasive qu antificati on of tissue iron. The tre atment of hereditary hemochromatosis is based on combinati on of erythrocytophe­resis and chelati on therapy. Administrati on of iron chelators represents the tre atment of cho ice in iron lo aded anemi as. Desferi oxamine, deferiprone and deferasirox are the three currently available iron chelators. The aim of chelati on therapy sho uld be not only removal of incre ased body iron stores but also a preventi on of development of iron overlo ad and toxic effect of „free“ iron.

Key words:
iron –  iron overlo ad –  hereditary hemochromatosis –  transferrin saturati on –  labile plasmatic iron –  serum ferritin –  chelati on therapy


1. Ganz T. Hepcidin in iron metabolism. Curr Opin Hematol 2004; 11: 251– 254.

2. Cabantchik ZI, Bre uer W, Zanninelli G et al. LPI- labile plasma iron in iron overlo ad. Best Pract Res Clin Haematol 2005; 18: 277– 287.

3. Aji oka RS, Kushner JP. Hereditary hemochromatosis. Semin Hematol 2002; 39: 235– 241.

4. Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Semin Hematol 2002; 39: 242– 248.

5. Ponka P. Rare ca uses of hereditary iron overlo ad. Semin Hematol 2002; 39: 249– 262.

6. Nemeth E, Ganz T. Hepcidin and iron-- lo ading anemi as. He amatologica 2006; 91: 727– 732.

7. Porter JB. Practical management of iron overlo ad. Br J Haematol 2001; 115: 239– 252.

8. Čermák J, Kačírková P, Mikulenková D et al. A prognostic impact of transfusi on dependency on survival of pati ents with e arly myelodysplastic syndrome. Blo od Revi ews 2007; 21: S78.

9. Gattermann N. From sideroblastic anemi a to the role of mitochondri al DNA mutati ons in myelodysplastic syndromes. Lek Res 2000; 24: 141– 151.

10. Gutteridge JM, Halliwell B. Iron toxicity and oxygen radicals. Bailli eres Clin Haematol 1989; 2: 195– 256.

11. Robson KJH, Merrywe ather- Clarke AT, Po inton JJ et al. Di agnosis and management of haemochromatosis since the discovery of the HFE gene: a Europe an experi ence. Br J Haematol 2000; 108: 31– 39.

12. Piperno A. Classificati on and di agnosis of iron overlo ad. Haematologica 1998; 83: 447– 455.

13. Taher A, Nathan D, Porter J. Evalu ati on of iron levels to avo id the clinical sequelae of iron overlo ad. Semin Hematol 2007; 44: S2– S6.

14. St Pi erre TG, Clark PR, Chu a- anusom W et al. Noninvasive me asurement and imaging of liver iron concentrati ons using proton magnetic resonance. Blo od 2005; 105: 855– 861.

15. Mavrogeni SI, Markussis V, Kaklamanis L et al. A comparison of magnetic resonance imaging and cardi ac bi opsy in the evalu ati on of he art iron overlo ad in pati ents with beta‑thalassemi a major. Eur J Haematol 2005; 75: 241– 247.

16. Hershko CM, Link GM, Konijn AM et al. Iron chelati on therapy. Curr Hematol Rep 2005; 4: 110– 116.

17. Olivi eri NF, Brittenham GM, McLaren CE et al. Long‑term safety and effectiveness of iron- chelati on therapy with deferiprone for thalassemi a major. N Engl J Med 1998; 339: 417– 423.

18. List AF, Baer MR, Steensma D et al. Iron chelati on with deferasirox (Exjade®) improves iron burden in pati ents with myelodysplastic syndromes (MDS). Blo od 2008; 112: 236. Abstract 634.

19. Sanz G, Nomdede u B, Sach H et al. Independent impact of iron overlo ad and transfusi on dependency on survival and le ukemic evoluti on in pati ents with myelodysplastic syndrome. Blo od 2008; 112: 238. Abstract 640.

20. Gattermann N. Overvi ew of guidelines on iron chelati on therapy in pati ents with myelodysplastic syndromes and transfusi onal iron overlo ad. Int J Hematol 2008; 88: 24– 29.

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