title: Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin.
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.
authors.affiliation: Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Turin, Italy.
authors.forename: M
authors.initials: M
authors.lastname: De Gobbi
authors.forename: P
authors.initials: P
authors.lastname: Pasquero
authors.forename: F
authors.initials: F
authors.lastname: Brunello
authors.forename: P
authors.initials: P
authors.lastname: Paccotti
authors.forename: U
authors.initials: U
authors.lastname: Mazza
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000309:Adrenal Insufficiency / Q000188:drug therapy / Q000209:etiology; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology; D015913:Chelation Therapy / Q000009:adverse effects; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003676:Deferoxamine / Q000009:adverse effects / Q000627:therapeutic use; D004921:Erythropoietin / Q000627:therapeutic use*; D015914:Estrogen Replacement Therapy; D005260:Female; D006432:Hemochromatosis / Q000145:classification / Q000150:complications* / Q000235:genetics; D006486:Hemosiderosis / Q000209:etiology / Q000628:therapy*; D020249:Hormone Replacement Therapy; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000209:etiology; D008103:Liver Cirrhosis / Q000209:etiology; D018962:Phlebotomy / Q000009:adverse effects; D011374:Progesterone / Q000627:therapeutic use; D011994:Recombinant Proteins; D017086:beta-Thalassemia / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000628:therapy
chemical_list: D000305:Adrenal Cortex Hormones; D011994:Recombinant Proteins; D004921:Erythropoietin; D011374:Progesterone; D003676:Deferoxamine