Efficacy of deferasirox for the treatment of iron overload in a child affected by Juvenile Hemochromatosis

Abstract

We report the case of a 7 years old girl with Juvenile Hemochromatosis, due to homozygous mutation of HJV, which had increased serum iron indices and liver iron overload in the absence of any clinical sign of disease. Oral iron chelation with low dose deferasirox showed good efficacy and no side effects. The oral iron chelator deferasirox could be a valid option for removing excess iron in early Juvenile Hemochromatosis.

Share and Cite:

Masera, N. , Cattoni, A. , Decimi, V. , D’Apolito, V. , Arosio, C. , Mariani, R. and Piperno, A. (2013) Efficacy of deferasirox for the treatment of iron overload in a child affected by Juvenile Hemochromatosis. Case Reports in Clinical Medicine, 2, 126-128. doi: 10.4236/crcm.2013.22033.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] De Gobbi, M., Roetto, A., Piperno, A., et al. (2002) Natural history of juvenile haemochromatosis. British Journal of Haematology, 117, 973-979. doi:10.1046/j.1365-2141.2002.03509.x
[2] Pietrangelo, A. (2004) Non-HFE hemochromatosis. Hepatology, 39, 21-29. doi:10.1002/hep.20007
[3] Piperno, A., Mariani, R., Trombini, P. and Girelli, D. (2009) Hepcidin modulation in human diseases: From research to clinic. World Journal of Gastroenterology, 15, 538-551. doi:10.3748/wjg.15.538
[4] Clark, P., Britton, L.J. and Powell, L.W. (2010) The diagnosis and management of hereditary haemochromatosis. Clinical Biochemist Reviews, 31, 3-8.
[5] Larsen, P., Eldridge, D., Brinkley, J., et al. (2010) Pediatric peripheral intravenous access: Does nursing experience and competence really make a difference? Journal of Infusion Nursing, 33, 226-235. doi:10.1097/NAN.0b013e3181e3a0a8
[6] Phatak, P., Brissot, P., Wurster, M., et al. (2010) A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology, 52, 1671-1779. doi:10.1002/hep.23879
[7] Cappellini, M.D., Porter, J., El-Beshlawy A., et al. (2010) Tailoring iron chelation by iron intake and serum ferritin: The prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias. Haematologica, 95, 557-566. doi:10.3324/haematol.2009.014696
[8] Santos, P.C., Cancado, R.D., Pereira, A.C., et al. (2010) HJV hemochromatosis, iron overload, and hypogonadism in a Brazilian man: Treatment with phlebotomy and deferasirox. Acta haematologica, 124, 204-205. doi:10.1159/000321493
[9] Maeda, T., Nakamaki, T., Saito, B., et al. (2011) Hemojuvelin hemochromatosis receiving iron chelation therapy with deferasirox: Improvement of liver disease activity, cardiac and hematological function. European Journal of Haematology, 87, 467-469. doi:10.1111/j.1600-0609.2011.01693.x
[10] Nick, H., Allegrini, P.R., Fozard, L., et al. (2009) Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. Experimental Biology and Medicine (Maywood), 234, 492-503. doi:10.3181/0811-RM-337
[11] Kaikov, Y., Wadsworth, L.D., Hassall, E., Dim-mick, J.E. and Rogers, P.C. (1992) Primary hemochro-matosis in children: Report of three newly diagnosed cases and review of the pediatric literature. Pediatrics, 90, 37-42.
[12] Piperno, A. (2013) Molecular diagnosis of he-mochromatosis. Expert Opinion on Medical Diagnostics, 7, 161-177. doi:10.1517/17530059.2013.763794

Copyright © 2024 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.