Abstract
Human antithrombin is a single-chain glycoprotein of MW 58 kDa and the most important plasma inhibitor of the coagulation serine proteases. It is a member of the serine protease inhibitor (SERPIN) family of proteins and in common with several other members of this family, its inhibitory activity is increased many thousand-fold in the presence of heparin and other sulphated glycosaminoglycans. Type I antithrombin deficiency, i.e., a 50% reduction in the total amount of plasma antithrombin is estimated to affect approx 1 in 4200 of the general population, whereas Type II deficiency—characterized by the presence of a dysfunctional protein in the plasma of affected individuals, which may be present in normal or reduced amounts—may affect as many as 1 in 600. Approximately 4–6% of individuals with thromboembolic disease will have antithrombin deficiency. A deficiency of antithrombin or a functional abnormality is a recognized cause of recurrent thromboembolic disease, although the risk is dependent upon the precise molecular abnormality. Individuals with Type I antithrombin deficiency or with mutations affecting the reactive site of the molecule or with multiple (pleiotropic) functional abnormalities are at high risk of venous thromboembolic disease, while those with mutations affecting the heparin binding domain are at relatively low risk from thrombosis.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Perry, D. J. (1994) Antithrombin and its inherited deficiencies. Blood Rev. 8, 37–55.
Perry, D. J. and Carrell, R. W. (1996) Molecular genetics of human antithrombin deficiency. Human Mutation 7, 7–22.
Lane, D. A., Olds, R. J., Boisclair, V., Chowdhury, V., Thein, S. L., Cooper, D. N., Blajchman, M., Perry, D. J., Emmerich, J., and Aiach, M. (1993) Antithrombin III mutation database: first update. Thromb. Haemostasis 70(2), 361–369.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1999 Humana Press Inc.
About this protocol
Cite this protocol
Perry, D.J. (1999). Mutational Analysis in Antithrombin Deficiency. In: Perry, D.J., Pasi, K.J. (eds) Hemostasis and Thrombosis Protocols. Methods in Molecular Medicine™, vol 31. Humana Press. https://doi.org/10.1385/1-59259-248-1:223
Download citation
DOI: https://doi.org/10.1385/1-59259-248-1:223
Publisher Name: Humana Press
Print ISBN: 978-0-89603-419-8
Online ISBN: 978-1-59259-248-7
eBook Packages: Springer Protocols