3 results
13/Oct/2022
DOI: 10.31744/einstein_journal/2022RC0076
ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic […]
Keywords: Cataract; Ferritins; Hyperferritinemia; Iron metabolism disorders; Iron overload; Mutation
31/Jan/2014
DOI: 10.1590/S1679-45082013000400022
To report a case of iron overload secondary to xerocytosis, a rare disease in a teenager, diagnosed, by T2* magnetic resonance imaging. We report the case of a symptomatic patient with xerocytosis, a ferritin level of 350ng/mL and a significant cardiac iron overload. She was diagnosed by T2* magnetic resonance imaging and received chelation therapy Ektacytometric analysis confirmed the diagnosis of hereditary xerocytosis. Subsequent T2* magnetic resonance imaging demonstrated complete resolution of the iron overload in various organs, as a […]
Keywords: Anemia; Case reports; Chelation therapy; Iron overload; Magnetic resonance imaging
01/Apr/2011
DOI: 10.1590/S1679-45082011AO1897
ABSTRACT Objectives: To evaluate the use of magnetic resonance imaging in patients with β-thalassemia and to compare T2* magnetic resonance imaging results with serum ferritin levels and the redox active fraction of labile plasma iron. Methods: We have retrospectively evaluated 115 chronically transfused patients (65 women). We tested serum ferritin with chemiluminescence, fraction of labile plasma iron by cellular fluorescence and used T2* MRI to assess iron content in the heart, liver, and pancreas. Hepatic iron concentration was determined in […]
Keywords: Biopsy; Blood transfusion; Iron overload; Magnetic resonance imaging