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Type 3 hemochromatosis and β ‐thalassemia trait
Author(s) -
Riva Alessia,
Mariani Raffaella,
Bovo Giorgio,
Pelucchi Sara,
Arosio Cristina,
Salvioni Alessandra,
Vergani Anna,
Piperno Alberto
Publication year - 2004
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2004.00230.x
Subject(s) - hemochromatosis , deferoxamine , medicine , thalassemia , hereditary hemochromatosis , gastroenterology , pathology
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 β ‐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 β ‐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.