Antithrombin deficiency and its laboratory diagnosis
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László Muszbek
,
Zsuzsanna Bereczky
Abstract
Antithrombin (AT) belongs to the serpin family and is a key regulator of the coagulation system. AT inhibits active clotting factors, particularly thrombin and factor Xa; its absence is incompatible with life. This review gives an overview of the protein and gene structure of AT, and attempts to explain how glucosaminoglycans, such as heparin and heparan sulfate accelerate the inhibitory reaction that is accompanied by drastic conformational change. Hypotheses on the regulation of blood coagulation by AT in physiological conditions are discussed. Epidemiology of inherited thrombophilia caused by AT deficiency and its molecular genetic background with genotype-phenotype correlations are summarized. The importance of the classification of AT deficiencies and the phenotypic differences of various subtypes are emphasized. The causes of acquired AT deficiency are also included in the review. Particular attention is devoted to the laboratory diagnosis of AT deficiency. The assay principles of functional first line laboratory tests and tests required for classification are discussed critically, and test results expected in various AT deficiency subtypes are summarized. The reader is provided with a clinically oriented algorithm for the correct diagnosis and classification of AT deficiency, which could be useful in the practice of routine diagnosis of thrombophilia.
Clin Chem Lab Med 2010;48:S67–78.
©2010 by Walter de Gruyter Berlin New York
Artikel in diesem Heft
- Editorial
- Special issue of the 10th EFCC Continuous Postgraduate Course in Clinical Chemistry: “New Trends in Classification, Diagnosis and Management of Thrombophilia”, October 2010, Dubrovnik, Croatia
- Reviews
- Platelet physiology and antiplatelet agents
- Hypercoagulable state, pathophysiology, classification and epidemiology
- Diagnostic algorithm for thrombophilia screening
- Genetic basis of thrombosis
- Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game
- Antithrombin deficiency and its laboratory diagnosis
- Factor V Leiden and FII 20210 testing in thromboembolic disorders
- Hyperhomocysteinemia and thrombophilia
- Pediatric thrombosis
- Thrombophilia screening – at the right time, for the right patient, with a good reason
- Methodological issues of genetic association studies
- Pharmacogenetics guided anticoagulation
Artikel in diesem Heft
- Editorial
- Special issue of the 10th EFCC Continuous Postgraduate Course in Clinical Chemistry: “New Trends in Classification, Diagnosis and Management of Thrombophilia”, October 2010, Dubrovnik, Croatia
- Reviews
- Platelet physiology and antiplatelet agents
- Hypercoagulable state, pathophysiology, classification and epidemiology
- Diagnostic algorithm for thrombophilia screening
- Genetic basis of thrombosis
- Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game
- Antithrombin deficiency and its laboratory diagnosis
- Factor V Leiden and FII 20210 testing in thromboembolic disorders
- Hyperhomocysteinemia and thrombophilia
- Pediatric thrombosis
- Thrombophilia screening – at the right time, for the right patient, with a good reason
- Methodological issues of genetic association studies
- Pharmacogenetics guided anticoagulation
