Aparato Locomotor

VOL.18 Nº4, OCTUBRE/DICIEMBRE 2007

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Identification of three mutations in the antithrombin gene

Ordóñez González A., Corral De la Calle
J., Miñano Navarro A., De Cos C.,
Hernández Espinosa D., González-Conejero
Hilla R., Sánchez Serrano I., Cano Gracia
H., Vicente García V.

Centro Regional de Hemodonación
Universidad de Murcia.

Antithrombin is the most important haemostatic anticoagulant. Since, in 1965 Egeber described the first antithrombin deficiency associated with an increase of thrombotic risk, many studies have identified families with antithrombin deficiency that caused a significantly increase in the risk of venous thrombosis. We studied three thrombofilic families with congenital antithrombin deficiency. In two of them, we identified mutations in antithrombin gene not described previously: InsT7429-30 and Lys125Arg. In the third family, we detected a variant, antithrombin Cambridge II (Ala384Ser) that had a high frequency in British population. We have evaluated the prevalence of this mutation in Spanish population, and its role in venous thrombosis in a case-control study including 1018 patients with venous thrombosis and 1018 healthy controls. We confirmed that antithrombin Cambridge II is not restricted to British population, as we observed this mutation in 0.2% of Spanish population and in 1.7% of patients with venous thrombosis. The mutated allele increased 9.75 fold the risk of venous thrombosis. Moreover, this mutation was the main cause of antithrombin deficiency among patients with venous thrombosis. Finally, we point that this variant can only be detected by molecular methods. All our data support the study of antithrombin Cambridge II in routine thrombophilic tests.

Correspondencia:

A. Ordóñez González. Centro Regional de Hemodonación
Ronda de Garay s/n. Murcia 30003. España
hadrianusca@hotmail.com

MAPFRE MEDICINA, 2007; 18 (4): 274-283


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