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

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.
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.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/39807
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 18
  • ???jsp.display-item.citation.isi??? 12
social impact