Laboratory Investigations of Thrombophilia

Clinical and Practical Aspects
Erscheinungsjahr 2025
ISBN: 978-3-031-90985-6
Verlag: Springer

Buch, Englisch, 230 Seiten, Format (B × H): 160 mm x 241 mm, Gewicht: 565 g

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.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Dorgalaleh, Akbar

Samadov, Anvarjon

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Hämatologie, Transfusionsmedizin
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Gynäkologie, Geburtshilfe
• Naturwissenschaften Chemie Chemie Allgemein Pharmazeutische Chemie, Medizinische Chemie

Inhaltsverzeichnis

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.

Über Autor(innen)

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 (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.