Thromb Haemost 2007; 98(03): 695-697
DOI: 10.1160/TH07-01-0067
Letters to the Editor
Schattauer GmbH

Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): Demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk

Elena Rossi
1   Institute of Hematology, Catholic University, Rome, Italy
,
Patrizia Chiusolo
1   Institute of Hematology, Catholic University, Rome, Italy
,
Tommaso Za
1   Institute of Hematology, Catholic University, Rome, Italy
,
Sara Marietti
1   Institute of Hematology, Catholic University, Rome, Italy
,
Angela Ciminello
1   Institute of Hematology, Catholic University, Rome, Italy
,
Giuseppe Leone
1   Institute of Hematology, Catholic University, Rome, Italy
,
Valerio De Stefano
1   Institute of Hematology, Catholic University, Rome, Italy
› Author Affiliations
Further Information

Publication History

Received 30 January 2007

Accepted after resubmission 05 June 2007

Publication Date:
28 November 2017 (online)

 

 
  • References

  • 1 De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood 1996; 87: 3531-3544.
  • 2 Lane DA, Bayston T, Olds RJ. et al. Antithrombin mutation database: 2nd (1997) update. Thromb Haemost 1997; 77: 197-211.
  • 3 Lane DA, Olds RR, Thein SL. Antithrombin and its deficiency states. Blood Coagul Fibrinolysis 1992; 3: 315-341.
  • 4 Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost 1987; 58: 1094.
  • 5 Girolami A, Lazzaro AR, Simioni P. The relationship between detective heparin cofactor activities and thrombotic phenomena in AT III abnormalities. Thromb Haemost 1988; 59: 121.
  • 6 Wells PS, Blajchman MA, Henderson P. et al. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study. Am J Hematol 1994; 45: 321-324.
  • 7 McColl M, Tait RC, Walker ID. et al. Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor V Leiden mutation. Blood Coagul Fibrinolysis 1996; 7: 689-694.
  • 8 Tripodi A, Mannucci PM. Laboratory investigation of thrombophilia. Clin Chem 2001; 47: 1597-606.
  • 9 Odegard OR, Lie M, Abildgaard U. Antifactor Xa activity measured with amidolytic methods. Haemostasis 1976; 5: 265-275.
  • 10 Abildgaard U, Fagerhol MK, Egeberg O. Comparison of progressive antithrombin activity and the concentration of three thrombin inhibitors in human plasma. Scand J Clin Lab Invest 1970; 26: 349-354.
  • 11 Huang ZF, Wun TC, Broze Jr. GJ. Kinetics of factor Xa inhibition by tissue factor pathway inhibitor. J Biol Chem 1993; 268: 26950-26955.
  • 12 Picard V, Bauters A, Khairy M. et al. Conformational Asn 187 Asp / Lys antithrombin variants and thrombosis. Clinical and biological features in 13 new heterozygotes. Thromb Haemost 2005; 93: 57-62.
  • 13 Owen MC, Borg JY, Soria C, Soria J, Carrell RW. Heparin binding defect in a new antithrombin III variant: Rouen, 47 Arg to His. Blood 1987; 69: 1275-1279.
  • 14 Wolf M, Boyer-Neumann C, Molho-Sabatier P, Neumann C, Meyer D, Larrieu MJ. Familial variant of antithrombin III (AT III Bligny, 47Arg to His) associated with protein C deficiency. Thromb Haemost 1990; 63: 215-219.
  • 15 Caso R, Lane DA, Thompson E. et al. Antithrombin Padua I: impaired heparin binding caused by an Arg 47 to His (CGT to CAT) substitution. Thromb Res 1990; 58: 185-190.