A Bβ 14 Arg → Cys fibrinogen variant in a patient with thrombotic complications (fibrinogen St-Germain III)

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 12, 2006, Pages 2722-2723

  de Raucourt, E ^a   Fischer, A M ^b,c,d,e   Meyer, G ^b,c,d,e   de Mazancourt, P ^f  

^a CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e INSERM   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; ARGININE; BATROXOBIN; CYSTEINE; FIBRINOGEN; FIBRINOGEN VARIANT; HEPARIN; THROMBIN; BBETA FIBRINOGEN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DEEP VEIN THROMBOSIS; DYSFIBRINOGENEMIA; FAMILY HEALTH; GENETIC POLYMORPHISM; HEREDITY; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOSPITAL ADMISSION; HUMAN; LONG TERM CARE; LUNG EMBOLISM; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; GENETICS; HETEROZYGOTE; LETTER; MUTATION; PEDIGREE; THROMBOPHILIA; VEIN THROMBOSIS;

ADULT; ARGININE; CYSTEINE; FIBRINOGEN; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PULMONARY EMBOLISM; RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 33751011932     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02240.x     Document Type: Article

References (10)

1. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann NY Acad Sci 2001; 936: 23-30.
2. Mosesson MW. Hereditary fibrinogen abnormalities. In: Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Kaushansky K, Prchal JT, eds. Williams Hematology, 7th edn. New York: McGraw-Hill, 2006: 1909-27.
3. Fibrinogen Variants Database [WWW document]. Available at URL http://www.geht.org/pages/database (accessed 3 November 2006).
4. Branson HE, Schmer G, Dillard DH. Fibrinogen Seattle: A qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot. Am J Clin Pathol 1977; 67: 236-40.
5. Koopman J, Haverkate F, Grimbergen J, Engesser L, Novakova I, Kerst AF, Lord ST. Abnormal fibrinogens IJmuiden (B beta Arg14-Cys) and Nijmegen (B beta Arg44-Cys) form disulfide-linked fibrinogen-albumin complexes. Proc Natl Acad Sci USA 1992; 89: 3478 --82.
6. Kaudewitz H, Henschen A, Soria J, Bertrand O, Haton D. The molecular defect of the genetically abnormal fibrinogen Christchurch II. In: Muller-Berghaus G, Acheefers-Brochel V, Sellmayn E, Henschen A, eds. Fibrinogen and Its Derivatives. Amsterdam: Elsevier Science Publishers, 1986: 31-6.
7. Brennan SO, Hammonds B, Spearing R, George PM. Electrospray ionisation mass spectrometry facilitates detection of fibrinogen (Bbeta 14 Arg → Cys) mutation in a family with thrombosis. Thromb Haemost 1997; 78: 1484-7.
8. Vakalopoulou S, Mille-Baker B, Mumford A, Manning R, Laffan M. Fibrinogen evidence for a role in thrombosis (Bbeta 14 Arg → Cys: further. Blood Coagul Fibrinolysis 1999; 10: 403-8.
9. Castaman G, Ghiotto R, Tosetto A, Rodeghiero F. Bbeta 14 Arg → Cys variant dysfibrinogen and its association with thrombosis. J Thromb Haemost 2005; 3: 409-10.
10. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-61.