Biomaterial Database

Plasma chitotriosidase activity in beta-thalassemia major: a comparative study between Sicilian and Sardinian patients. 2001

R Barone, and G Bertrand, and J Simporè, and M Malaguarnera, and S Musumeci

Division of Pediatric Neurology, Department of Pediatrics, University of Catania, Italy.

BACKGROUND Chitotriosidase is a functional chitinase secreted by activated macrophages, which is extremely increased in plasma of patients with Gaucher disease (beta-glucocerebrosidase deficiency). Recently, we found that chitotriosidase plasma levels were increased to a variable extent in Sicilian patients with beta-thalassemia major. The aim of this study is to elucidate the possible mechanisms underlying chitotriosidase overproduction in beta-thalassemia major. METHODS Plasma chitotriosidase was measured in 134 patients with beta-thalassemia major (64 from Sardinia and 70 from Sicily), which are treated chronically by blood transfusions leading to systemic iron overload. They all have peripheral anemia and enormous enlargement of the reticulo-endothelial system. RESULTS Plasma chitotriosidase activity was found most frequently elevated among Sardinian (48.4%) than Sicilian (17.1%) patients. In either group, the highest levels of plasma chitotriosidase were observed in patients with the highest degree of iron overload, suggesting that this factor could trigger chitotriosidase overproduction. CONCLUSIONS The higher rate of subjects with increased plasma chitotriosidase values among Sardinian than Sicilian could be related to distinct molecular basis of beta-thalassemia and environmental features.

UI	MeSH Term	Description	Entries
D007558	Italy	A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome.	Sardinia
D008297	Male		Males
D005260	Female		Females
D006596	Hexosaminidases	Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.	Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017086	beta-Thalassemia	A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.	Anemia, Cooley's,Anemia, Erythroblastic,Anemia, Mediterranean,Hemoglobin F Disease,Thalassemia Major,Thalassemia Minor,Erythroblastic Anemia,Mediterranean Anemia,Microcytemia, beta Type,Thalassemia Intermedia,Thalassemia Major (beta-Thalassemia Major),Thalassemia Minor (beta-Thalassemia Minor),Thalassemia, beta Type,beta Thalassemia,Anemia, Cooley,Anemia, Cooleys,Anemias, Erythroblastic,Anemias, Mediterranean,Cooley's Anemia,Disease, Hemoglobin F,Intermedia, Thalassemia,Intermedias, Thalassemia,Major, Thalassemia (beta-Thalassemia Major),Majors, Thalassemia (beta-Thalassemia Major),Mediterranean Anemias,Microcytemias, beta Type,Minor, Thalassemia (beta-Thalassemia Minor),Minors, Thalassemia (beta-Thalassemia Minor),Thalassemia Intermedias,Thalassemia Major (beta Thalassemia Major),Thalassemia Majors (beta-Thalassemia Major),Thalassemia Minor (beta Thalassemia Minor),Thalassemia Minors (beta-Thalassemia Minor),Thalassemia, beta,Thalassemias, beta,Thalassemias, beta Type,Type Microcytemia, beta,Type Microcytemias, beta,Type Thalassemia, beta,Type Thalassemias, beta,beta Thalassemias,beta Type Microcytemia,beta Type Microcytemias,beta Type Thalassemia,beta Type Thalassemias