Laboratory Investigations of Thrombophilia

This comprehensive book provides an in-depth overview of the laboratory diagnosis of major inherited thrombophilias, genetic disorders associated with an increased risk of venous thromboembolism. Beginning with an introduction to thrombophilia testing, the book systematically covers the diagnosis of deficiencies in key anticoagulant factors and proteins, including antithrombin, protein C, protein S, protein Z, and plasminogen. It also discusses testing for major thrombophilia mutations such as factor V Leiden and prothrombin G20210A, as well as hyperhomocysteinemia. The book elucidates the principles behind each laboratory assay, preanalytical variables affecting results, and interpretation of findings. Challenging scenarios in thrombophilia testing, such as pregnancy, oral contraceptives, acute thrombosis, and monitoring anticoagulation therapy, are specifically addressed. The final chapters cover combined and rare inherited thrombophilias. Written in a clear yet comprehensive style, this book is geared towards thrombosis specialists, hematologists, laboratory scientists, and students. It provides extensive knowledge and practical guidance on thrombophilia testing protocols, methodologies, quality assurance, and result application for accurate diagnosis and management of this life-threatening disorder.