Phenotypic and Genotypic Analysis of a Hereditary Antithrombin Deficiency Pedigree Due to a Novel SERPINC1 Mutation (p.Met281Thr)

AbstractAntithrombin (AT) is one of the physiological anticoagulants that are mainly synthesized in the liver. As a protease inhibitor belonging to the serpin superfamily, AT is able to inactivate thrombin and inhibit activated coagulation factors IX, X, XI, and XII (FIXa, FXa, FXIa, and FXIIa).1 Moreover, it has been found that AT can inhibit activated FVII (FVIIa) by accelerating dissociation of FVIIa–tissue factor complex and preventing it from recombining.2 The AT gene (SERPINC1), located on chromosome 1 at q23.1–23.9 and spreads 13.5 kb, is composed of seven extrons and six introns.3 Hereditary AT deficienc…