Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture

ConclusionIn Finland, a population with a strong founder effect, AT type II deficiency is caused predominantly by a single point mutation, p.Pro73Leu. The mutation is associated with a significant thrombotic risk. Reduced AT activity caused by this mutation cannot be detected by all available screening methods. This must be taken into account in the choice of laboratory method used for screening.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fjth.12364

Source: Journal of Thrombosis and Haemostasis - October 10, 2013 Category: Hematology Authors: M. Puurunen, P. Salo, S. Engelbarth, K. Javela, M. Perola Tags: Original Article Source Type: research