Juvenile hemochromatosis is a rare genetic disorder that causes iron overload. Clinical complications, which include liver cirrhosis, heart failure, hypogonadotropic hypogonadism and diabetes, appear earlier and are more severe than in HFE-related hemochromatosis. This disorder, therefore, requires an aggressive therapeutic approach to achieve iron depletion. We report here the case of a young Italian female with juvenile hemochromatosis who was unable to tolerate frequent phlebotomy because of coexistent ss-thalassemia trait. The patient was successfully iron-depleted by combining phlebotomy with recombinant human erythropoietin.

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

DE GOBBI, Marco;PACCOTTI, Piero;MAZZA, Umberto;CAMASCHELLA, Clara
2000-01-01

Abstract

Juvenile hemochromatosis is a rare genetic disorder that causes iron overload. Clinical complications, which include liver cirrhosis, heart failure, hypogonadotropic hypogonadism and diabetes, appear earlier and are more severe than in HFE-related hemochromatosis. This disorder, therefore, requires an aggressive therapeutic approach to achieve iron depletion. We report here the case of a young Italian female with juvenile hemochromatosis who was unable to tolerate frequent phlebotomy because of coexistent ss-thalassemia trait. The patient was successfully iron-depleted by combining phlebotomy with recombinant human erythropoietin.
2000
85
865
867
Adrenal Cortex Hormones; therapeutic use, Adrenal Insufficiency; drug therapy/etiology, Adult, Arrhythmias; Cardiac; etiology, Chelation Therapy; adverse effects, Chromosomes; Human; Pair 1; genetics, Deferoxamine; adverse effects/therapeutic use, Erythropoietin; therapeutic use, Estrogen Replacement Therapy, Female, Hemochromatosis; classification/complications/genetics, Hemosiderosis; etiology/therapy, Hormone Replacement Therapy, Humans, Hypogonadism; drug therapy/etiology, Liver Cirrhosis; etiology, Phlebotomy; adverse effects, Progesterone; therapeutic use, Recombinant Proteins, beta-Thalassemia; complications/drug therapy/genetics/therapy
DE GOBBI M; PASQUERO P; BRUNELLO F; PACCOTTI P; MAZZA U; CAMASCHELLA C.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/39807
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