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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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 . 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.
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