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Am J Hematol 1993 Nov;44(3):219-20
Blue nasal secretions: a presentation of Gaucher's disease and concurrent
hemosiderosis.
Schiano TD, Grinberg M, Nawabi I, Grabowski G
Publication Types:
* Letter
PMID: 8213785, UI: 94027017
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Blood Cells Mol Dis 1999 Feb;25(1):1-8
Plasma chitotriosidase activity in patients with beta-thalassemia.
Barone R, Di Gregorio F, Romeo MA, Schiliro G, Pavone L
Division of Pediatric Neurology, Institute of Pediatrics,
Catania-Italy. r.barone@tau.it
Chitotriosidase, a macrophage marker, which is extremely increased in
plasma of Gaucher patients, was measured in patients with
beta-thalassemia, an haematological disorder characterized by the
genetic defect of beta-globin chains synthesis resulting in
unproductive erythropoiesis and enormous expansion of the
reticuloendothelial system. Plasma chitotriosidase was increased to a
variable extent in 13 of 70 patients with beta-thalassemia major
treated with the intense transfusion regimen and iron chelation
therapy. It was normal in 22 and slightly elevated in 3 subjects with
beta-thalassemia intermedia which were not transfused. The highest
levels of plasma chitotriosidase, as high as in Gaucher patients, were
found in 7 (10%) of the beta-thalassemia major patients which also had
the highest degree of iron overload as judged by their serum ferritin
level (> 3000 ng/ml), high SGPT level and elevated urinary iron
excretion. To our knowledge, beta-thalassemia is hitherto the only
disorder in which an increase of plasma chitotriosidase, comparable to
that seen in Gaucher disease, may occur. The increase of plasma
chitotriosidase activity in beta-thalassemia patients with high iron
overload, could be related to an iron mediated damage to the lysosomal
apparatus. In addition, similarly to Gaucher disease, the increased
chitotriosidase production in beta-thalassemia might reflect
macrophage activation probably related to the intracellular iron
overload, storage of erythrocytes membrane break-down products and
oxidation of excess alpha-hemoglobin subunits. Further studies are
required to define the role of chitotriosidase evaluation to assess
the efficacy of chelation therapy in reducing the macrophage
activation due to intracellular iron overload in beta-thalassemia.
PMID: 10349508, UI: 99279125
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