Download PDF
Thromb Haemost 2008; 99(02): 443-444
DOI: 10.1160/TH07-11-0670
Case Report
Schattauer GmbH

Antithrombin Cambridge II mutation as a risk factor to develop cerebral venous thrombosis

Pere Barba
1   Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
,
Amparo Santamaría
1   Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
,
Isabel Tirado
1   Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
,
Edelmira Martí
1   Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
,
Jordi Fontcuberta
1   Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
› Author Affiliations Financial support: The study was supported in part by el Ministerio de Sanidad y Consumo, Instituto de Salud Carlos III, red RECAVA RD 06/0014/0016 and 2005 SGR 01068.Depart. d'Innovació,Universitats i Empresa. Genaralitat de Catalunya.
Further Information

Publication History

Received: 10 November 2007

Accepted after major revision: 11 January 2007

Publication Date:
24 November 2017 (online)

    Permissions and Reprints

 

 

  • References

  • 1 Perry DJ, Daly M, Harper PL. et al. Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. FEBS Lett 1991; 285: 248-250.
    CrossrefPubMedGoogle Scholar
  • 2 Corral J, Hernandez-Espinosa D, Soria JM. et al. Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 2007; 109: 4258-4263.
    CrossrefPubMedGoogle Scholar
  • 3 Dentali F, Crowther M, Ageno W. Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis. Blood 2006; 107: 2766-2773.
    CrossrefPubMedGoogle Scholar
  • 4 Libourel EJ, Kate MK, Brouwer JL. et al. Contribution of multiple thrombophilic and transient risk factors in the development of cerebral venous thrombosis. Thromb Res. 2007 Epub ahead of print.
    PubMedGoogle Scholar
  • 5 Souto JC, Almasy L, Borrell M. et al. Genetic susceptibility to thrombosis and its relationship to phisiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet 2000; 67: 1452-1459.
    CrossrefPubMedGoogle Scholar
  • 6 Santamaría A, Soria JM, Tirado I, Mateo J, Coll I, Souto JC, Fontcuberta J. Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family. Thromb Haemost 2005; 93: 1193-1195.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Perry DJ, Daly ME, Tait RC. et al. Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. Thromb Haemost 1998; 79: 249-253.
    Article in Thieme ConnectPubMedGoogle Scholar