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 Blood, 1 January 2007, Vol. 109, No. 1, pp. 362-364.
Prepublished online as a Blood First Edition Paper on September 7, 2006; DOI 10.1182/blood-2006-04-016949.

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RED CELLS

Brief report

Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH)

Giovanna Fabio1,, Francesca Minonzio1, Paola Delbini1, Annamaria Bianchi1, and Maria Domenica Cappellini1

1 Department of Internal Medicine, Università degli Studi di Milano and Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy

Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH, symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economic therapeutic approach in hemochromatosis patients but is not indicated during the treatment of severe congestive heart failure with unstable hemodynamic status. The treatment of iron overload in these prohibitive clinical situations has to be carried out using iron chelators. We report a case of heart failure in the setting of unrecognized juvenile hemochromatosis successfully treated by the simultaneous administration of deferoxamine and deferiprone. To our knowledge, this is the first patient affected by JH treated with combined chelation regimen.


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