Juvenile hemochromatosis associated with beta-thalassemia treated by phlebotomy and recombinant human erythropoietin

Juvenile hemochromatosis is a rare genetic disorder that causes iron overlo ad. Clinical complications, which include liver cirrhosis, heart failure, h ypogonadotropic hypogonadism and diabetes, appear earlier and are more seve re than in HFE-related hemochromatosis. This disorder, therefore, requires an aggressive therapeutic approach to achieve iron depletion. We report her e the case of a young Italian female with juvenile hemochromatosis who was unable to tolerate frequent phlebotomy because of coexistent beta-thalassem ia trait. The patient was successfully iron-depleted by combining phlebotom y with recombinant human erythropoietin. (C)2000, Ferrata Storti Foundation .