A Novel Factor V Null Mutation at Arg 506 Causes a False Positive Factor V Leiden Result

Thromb Haemost 1999; 82(03): 1198-1199
DOI: 10.1055/s-0037-1614354

Letters to the Editor

Schattauer GmbH

Oksana Mirochnik

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

,

Natasha Halim-Kertanegara

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

,

Anthony J. Henniker

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

,

Emmanuel J. Favaloro

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

,

Campbell R. Tiley

²Central Coast Area Pathology, Gosford Hospital, Gosford, Australia

,

Mark S. Hertzberg

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

,

David A. McDonald

¹From the Department of Haematology, Westmead Hospital, Sydney, Australia

References
1 Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation Factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
2 Margaglione M, D’Andrea G, Capucci G, Grandone E, Giuliani N, Colaizzo G, Vecchione G, Di Minno G. Detection of the Factor V Leiden using SSCP. Thromb Haemost 1996; 76: 814-5.
3 Lunghi B, Castoldi E, Mingozzi F, Bernardi F, Castaman G. A novel Factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject. Blood 1998; 92: 1463-4.
4 Guasch JF, Lensen RPM, Bertina RM. Molecular characterization of a type 1 quantitative Factor V deficiency in a thrombosis patient that is “pseudo-homozygous” for activated protein C resistance. Thromb Haemost 1997; 77: 252-7.