Thrombin Activatable Fibrinolysis inhibitor Thr 325 Ile polymorphism in fetuses with factor XIII deficient family history and Intracranial hemorrhage

ABSTRACT

Background: factor XIII Deficiency [FXIIID] is an inherited rare bleeding disorder with some life threatening clinical manifestation including Intracranial Haemorrhage [ICH]. Among all polymorphisms found in FXIIID, Thrombin Activatable Fibrinolysis Inhibitor [TAFI] Thr325Ile gene polymorphism increases probability of ICH about 20 fold in patients with FXIII .So, in this study we aimed to evaluate TAFI Thr 325 Ile polymorphism in Chorionic villus samples [CVS] of fetuses with positive family history of FXIIID and ICH