Laboratory Investigations of Thrombophilia - Clinical and Practical Aspects

This comprehensive book offers an in-depth overview of laboratory diagnoses for both inherited and acquired thrombophilias, illuminating the complex interplay between genetic and environmental factors that contribute to venous thromboembolism. Beginning with foundational concepts in thrombophilia testing, the book systematically covers the diagnosis of key anticoagulant deficiencies, including protein C, protein S, protein Z, antithrombin, and plasminogen, as well as the critical evaluation of prothrombin G20210A and factor V Leiden mutations and other factors involved in thrombosis. It also addresses acquired thrombophilia, highlighting the significant impact of factors such as hyperhomocysteinemia and the influence of medications, lifestyle choices, and underlying health conditions on thrombosis risk. Each chapter clarifies the principles behind various laboratory assays, detailing the preanalytical variables that can affect results and guiding the interpretation of findings. Real-world challenges in thrombophilia testing such as during pregnancy, the use of oral contraceptives, and monitoring anticoagulation therapy are specifically examined. Written in a clear yet comprehensive style, this book is aimed at thrombosis specialists, hematologists, laboratory scientists, and students. It provides extensive knowledge, practical guidance, and evidence-based protocols for thrombophilia testing, ensuring accurate diagnosis and effective management of this life-threatening disorder.

List of contents

1. An Overview of Laboratory Diagnosis of Thrombophilia.- 2. Laboratory Diagnosis of Congenital Antithrombin Deficiency.- 3. Laboratory Diagnosis of Congenital and Acquired Protein C Deficiencies and Assays for Circulating Activated Protein C levels.- 4. Laboratory Diagnosis of Hereditary and Acquired Protein S Deficiencies.- 5. Laboratory Diagnosis of Protein Z Deficiency.- 6. Laboratory Diagnosis of Factor V Leiden.- 7. Laboratory Diagnosis of Prothrombin G20210A Mutation.- 8. Laboratory Diagnosis of Congenital and Acquired Hyper-homocysteinemia.- 9. Laboratory Diagnosis of Congenital Plasminogen Deficiency.- 10. Laboratory Diagnosis of Congenital Tissue Factor Pathway Inhibitor.- 11. Laboratory Diagnosis of Tissue Plasminogen Activator Deficiency.- 12. Laboratory Diagnosis of Combined Inherited/Genetic Thrombophilia.- 13. Laboratory Diagnosis of Inherited and Acquired Factors Involved in Thrombosis.

About the author

Dr Akbar Dorgalaleh is a scientific researcher in the field of thrombosis and haemostasis who has (co-)authored over 120 publications. He is/was on the editorial board of several international journals, including Seminars in Thrombosis and Haemostasis, PLOS One, and Cellular and Molecular Anaesthesia. In addition, Dr Dorgalaleh is a current member of several international scientific societies or working groups, including the International Society on Thrombosis and Hemostasis (ISTH) Scientific Standardisation Committees (SSCs) on the Subcommittee on Factor XIII and Fibrinogen and the International Council for Standardisation in Haematology (ICSH). As editor of the Springer book Congenital Bleeding Disorders: Diagnosis and Management (2nd edition, 2023), he provides a comprehensive insight into congenital bleeding disorders such as Glanzmann thrombasthenia, Bernard-Soulier syndrome and Factor XIII deficiency, covering modern diagnostic and therapeutic advances.
 
Mr Samadov is a medical laboratory professional with extensive experience in clinical diagnostics. He completed his education in medical laboratory science at the Mashhad University of Medical Sciences. Following his studies, he moved to Dushanbe, Tajikistan, where he has built a distinguished career in medical clinical laboratory work spanning over a decade. During his tenure in Dushanbe, Samadov developed extensive expertise in the practical aspects of laboratory medicine.

Summary

This comprehensive book offers an in-depth overview of laboratory diagnoses for both inherited and acquired thrombophilias, illuminating the complex interplay between genetic and environmental factors that contribute to venous thromboembolism.
 
Beginning with foundational concepts in thrombophilia testing, the book systematically covers the diagnosis of key anticoagulant deficiencies, including protein C, protein S, protein Z, antithrombin, and plasminogen, as well as the critical evaluation of prothrombin G20210A and factor V Leiden mutations and other factors involved in thrombosis. It also addresses acquired thrombophilia, highlighting the significant impact of factors such as hyperhomocysteinemia and the influence of medications, lifestyle choices, and underlying health conditions on thrombosis risk.
 
Each chapter clarifies the principles behind various laboratory assays, detailing the preanalytical variables that can affect results and guiding the interpretation of findings. Real-world challenges in thrombophilia testing such as during pregnancy, the use of oral contraceptives, and monitoring anticoagulation therapy are specifically examined.
 
Written in a clear yet comprehensive style, this book is aimed at thrombosis specialists, hematologists, laboratory scientists, and students. It provides extensive knowledge, practical guidance, and evidence-based protocols for thrombophilia testing, ensuring accurate diagnosis and effective management of this life-threatening disorder.

Product details

• Assisted by: Akbar Dorgalaleh (Editor), Samadov (Editor), Anvarjon Samadov (Editor)
• Publisher: Springer, Berlin
• Languages: English
• Product format: Hardback
• Release: 17.07.2025
• EAN: 9783031909856
• ISBN: 978-3-0-3190985-6
• No. of pages: 202
• Illustrations: II, 202 p. 44 illus., 38 illus. in color.
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; Gynäkologie und Geburtshilfe, Medizinische Chemie, Pharmazeutische Chemie, Hematology, Gynecology, Medical Biochemistry, thrombosis, thrombophilia, Prothrombin 20210 G > A, Factor V leiden, APCR