Type 3 hemochromatosis and beta-thalassemia trait |
| |
Authors: | Riva Alessia Mariani Raffaella Bovo Giorgio Pelucchi Sara Arosio Cristina Salvioni Alessandra Vergani Anna Piperno Alberto |
| |
Affiliation: | Clinica Medica, Azienda Ospedaliera San Gerardo, Università Milano-Bicocca, Via Donizetti 106, 20052 Monza, Italy. |
| |
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. |
| |
Keywords: | hemochromatosis TFR2 gene β-thalassemia trait iron chelation therapy |
本文献已被 PubMed 等数据库收录! |
|