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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Cortex Hormones / therapeutic use
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Adrenal Insufficiency / drug therapy
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Adrenal Insufficiency / etiology
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Adult
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Arrhythmias, Cardiac / etiology
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Chelation Therapy / adverse effects
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Chromosomes, Human, Pair 1 / genetics
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Deferoxamine / adverse effects
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Deferoxamine / therapeutic use
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Erythropoietin / therapeutic use*
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Estrogen Replacement Therapy
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Female
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Hemochromatosis / classification
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Hemochromatosis / complications*
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Hemochromatosis / genetics
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Hemosiderosis / etiology
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Hemosiderosis / therapy*
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Hormone Replacement Therapy
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Humans
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Hypogonadism / drug therapy
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Hypogonadism / etiology
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Liver Cirrhosis / etiology
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Phlebotomy* / adverse effects
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Progesterone / therapeutic use
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Recombinant Proteins
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beta-Thalassemia / complications*
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beta-Thalassemia / drug therapy
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beta-Thalassemia / genetics
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beta-Thalassemia / therapy
Substances
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Adrenal Cortex Hormones
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Recombinant Proteins
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Erythropoietin
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Progesterone
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Deferoxamine