Progetto TELETHON: INHERITED ALTERATIONS OF THE PROTHROMBINASE COMPLEX IN THROMBOPHILIAS

The molecular bases of congenital thrombophilias and of its life-threatening complication, polmonary embolism, will be investigated both at nucleic acid and protein levels in patients affected by thrombotic events. Particularly attention will be focused on combinations of molecular alterations and functional polymorphisms affecting the prothrombinase complex, a key step in the coagulation cascade. We propose an integrate genotype/phenotype study of haemostatic factors involved in this complex or contributing to boost its activity. Results and informations will lay the foundations for direct strategies for prevention in thrombophilia and for more selective therapies