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Plasma chitotriosidase activity in patients with beta-thalassemia

Barone, Rita and Malaguarnera, Lucia and Angius, Andrea and Musumeci, Salvatore (2003) Plasma chitotriosidase activity in patients with beta-thalassemia. American Journal of Hematology, Vol. 72 (4), p. 285-286. eISSN 1096-8652. Article.

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DOI: 10.1002/ajh.10294

Abstract

We were interested to read the report by G. Altarescu and colleagues (September 71, p 7–10)about the occurrence of increased plasma chitotriosidase activity in Israeli patients with -thalassemia, which confirms our previous studies in Sicilian and Sardinian patients [2,3]. The authors suggested that distinguishing genetic and environmental factors should be taken into account for the recorded differences among various populations, including Israeli patients. The nature of congenital deficiency in chitotriosidase activity has been identified in a duplication of 244 base pairs in exon 10, which results in activation of a cryptic 3' splice site, generating a mRNA with an inframe deletion of 87 nucleotides [4]. In Sicily we found a heterozygous frequency for chitotriosidase deficiency of almost 44%, which indicates that the duplication is the major cause of chitotriosidase deficiency (5%), according to the Hardy–Weinberg equation. In addition, the finding of a lower heterozygous frequency (33%) in Sardinia might explain the most frequent elevation of chitotriosidase among Sardinia versus Sicilian thalassemia patients. Likewise, we encourage a similar study among Israeli patients considering that different environmental factors should also play a major role.

Item Type:Article
ID Code:1252
Status:Published
Refereed:Yes
Uncontrolled Keywords:β-thalassemia, plasma chitotriosidase activity, Sardinia, Sicily
Subjects:Area 06 - Scienze mediche > MED/38 Pediatria generale e specialistica
Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di genetica delle popolazioni, Alghero
Publisher:Wiley-Liss
eISSN:1096-8652
Deposited On:18 Aug 2009 10:04

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