Type 3 hemochromatosis and beta-thalassemia trait.

Abstract

Type 3 hemochromatosis is a rare autosomal recessive disorder due to mutations of the TFR2 gene. We describe clinical, biochemical and histopathologic findings of a patient with type 3 hemochromatosis at presentation and during a follow-up of more than 20 yr and we evaluate the effect of an associated beta-thalassemia trait on phenotypic expression. At the age of 33 yr the patient showed a marked iron overload and severe iron-related complications. After removal of 26 g of iron by subcutaneous deferoxamine infusion a marked clinical improvement was observed. Liver biopsies, performed at the age of 34 and 49 yr, indicate that in type 3 hemochromatosis there is a progressive hepatocellular iron accumulation from Rappaport's zone 1-3 and that iron loading in sinusoidal and portal macrophages occurs only in the more advanced stage. As observed in HFE hemochromatosis, the beta-thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator.

• Authors: Alessia Riva, Raffaella Mariani, Giorgio Bovo, Sara Pelucchi, Cristina Arosio, Alessandra Salvioni, Anna Vergani, Alberto Piperno
• Journal: European journal of haematology (Eur J Haematol) Vol. 72 Issue 5 Pg. 370-4 (May 2004) ISSN: 0902-4441 [Print] England
• PMID: 15059075 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Iron Chelating Agents
• Receptors, Transferrin
• TFR2 protein, human
• Deferoxamine

Topics

• Adult
• Amino Acid Substitution
• Biopsy
• Cardiomyopathy, Dilated (etiology)
• Chelation Therapy
• DNA Mutational Analysis
• Deferoxamine (therapeutic use)
• Disease Progression
• Exons (genetics)
• Hemochromatosis (complications, genetics, pathology)
• Humans
• Iron Chelating Agents (therapeutic use)
• Iron Overload (drug therapy, etiology, pathology)
• Liver (pathology)
• Liver Cirrhosis (etiology)
• Male
• Mutation, Missense
• Receptors, Transferrin (deficiency, genetics)
• beta-Thalassemia (complications, genetics, pathology)