083 - Understanding hemostasis: progress and impact on the laboratory

Autor(s): F. Rodeghiero

Issue: RIMeL - IJLaM, Vol. 5, N. 2, 2009 (MAF Servizi srl ed.)

Page(s): 83-90

The development of coagulation laboratory has paralleled the advances of knowledge of the pathophysiology of the hemostatic system. By using rather simple methodologies and taking advantage of the “natural” experiments represented by patients with congenital clotting disorders, the pioneers in clotting studies have settled the basis for still seminal laboratory methods, like PTT or PT. This allowed since 1960s the identification of all the clotting factors, whose deficiency can cause specific bleeding disorders. Further outstanding progress for coagulation laboratory has stemmed from the production of polyclonal and monoclonal antibodies which allowed the distinction between quan- titative and qualitative defects, providing clues about structure-function relationship studies of these proteins. Furthermore, the increasing interest towards inherited thrombophilia has prompted the implementation of several novel assays for the identification of abnormalities of the natural clotting inhibitors (e.g., Protein C and S) and the capability to identify very frequent genetic polymorphisms responsible for familial thrombosis (e.g. FV Leiden, G20210A prothrombin variation) with rather simple and fast methods, now widely used. Nowadays, very few, probably mild inherited bleeding disorders could go unrecognized by the present methods and even subtle abnormalities can be appreciated by the sophisticated laboratory methods available. Most of the present studies are now focusing on the identification of additional risk factors for bleeding and thrombosis assessed by wide screenings of several genetic polymorphisms and by gene association studies in large populations.
Key-words: Historical article, Hematology/history, Haemastasis, Thrombosis, Laboratory methods.

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