Abnormalities of prothrombin: A review of the pathophysiology, diagnosis, and treatment

Haemophilia

Volumn 14, Issue 6, 2008, Pages 1159-1163

  Meeks, Shannon L ^a   Abshire, T C ^a  

^a EMORY UNIVERSITY   (United States)

Author keywords

Bleeding; Coagulation; Factor II; Haemostasis; Prothrombin; Thrombophilia

Indexed keywords

AMINOCAPROIC ACID; BEBULIN VH; BLOOD CLOTTING FACTOR 9 COMPLEX; ESTROGEN; FRESH FROZEN PLASMA; PROFILNINE SD; PROGESTERONE; PROTHROMBIN; PROTHROMBIN COMPLEX; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

ANEMIA; ANTICOAGULATION; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; BRAIN HEMORRHAGE; CHROMOSOME 11P; CLINICAL FEATURE; CLINICAL RESEARCH; CLINICAL TRIAL; DISEASE ASSOCIATION; DOWN REGULATION; ETHNICITY; GENE MUTATION; HEMARTHROSIS; HOMEOSTASIS; HORMONAL THERAPY; HUMAN; IMMUNOASSAY; INCIDENCE; JOINT CONTRACTURE; MEDLINE; MUCOSAL BLEEDING; MUSCLE CONTRACTURE; MUSCULOSKELETAL DISEASE; PARTIAL THROMBOPLASTIN TIME; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTHROMBIN DEFICIENCY; RARE DISEASE; RECOMMENDED DRUG DOSE; REVIEW; SYSTEMATIC REVIEW; THROMBOSIS;

BLOOD COAGULATION; BLOOD COAGULATION FACTORS; BLOOD COAGULATION TESTS; CONSANGUINITY; FEMALE; GENOTYPE; HEMORRHAGE; HUMANS; HYPOPROTHROMBINEMIAS; INFANT, NEWBORN; IRAN; ITALY; MUTATION; NORTH AMERICA; PLASMA; PREGNANCY; PROTHROMBIN; RARE DISEASES; REGISTRIES; THROMBOPHILIA;

EID: 55949101419     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01832.x     Document Type: Review

References (29)

1. Girolami A, Scarano L, Saggiorato G, Girolami B, Bertomoro A, Marchiori A. Congenital deficiencies and abnormalities of prothrombin. Blood Coagul Fibrinolysis 1998; 9: 557-69.
2. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
3. Acharya SS, Coughlin A, Dimichele DM. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-56.
4. Bianchini EP, Orcutt SJ, Panizzi P, Bock PE, Krishnaswamy S. Ratcheting of the substrate from the zymogen to proteinase conformations directs the sequential cleavage of prothrombin by prothrombinase. Proc Natl Acad Sci USA 2005; 102: 10099-104.
5. Goodnight S, Hathaway W. Disorders of Hemostasis and Thrombosis - A Clinical Guide, 2nd edn. New York: The McGraw-Hill Companies, 2001.
6. Davie EW, Kulman JD. An overview of the structure and function of thrombin. Semin Thromb Hemost 2006; 32 (Suppl 1): 3-15.
7. Sambrano GR, Weiss EJ, Zheng YW, Huang W, Coughlin SR. Role of thrombin signalling in platelets in haemostasis and thrombosis. Nature 2001; 413: 74-8.
8. Peterson EA, Sutherland MR, Nesheim ME, Pryzdial EL. Thrombin induces endothelial cell-surface exposure of the plasminogen receptor annexin 2. J Cell Sci 2003; 116 (Pt 12): 2399-408.
9. Coughlin SR. Thrombin signalling and protease-activated receptors. Nature 2000; 407: 258-64.
10. Griffin CT, Srinivasan Y, Zheng YW, Huang W, Coughlin SR. A role for thrombin receptor signaling in endothelial cells during embryonic development. Science 2001; 293: 1666-70.
11. Patterson C, Stouffer GA, Madamanchi N, Runge MS. New tricks for old dogs: Nonthrombotic effects of thrombin in vessel wall biology. Circ Res 2001; 88: 987-97.
12. Peyvandi F, Kaufman RJ, Seligsohn U et al. Rare bleeding disorders. Haemophilia 2006; 12 (Suppl 3): 137-42.
13. Sun WY, Witte DP, Degen JL et al. Prothrombin deficiency results in embryonic and neonatal lethality in mice. Proc Natl Acad Sci USA 1998; 95: 7597-602.
14. Brenner B. Hereditary deficiency of vitamin K-dependent coagulation factors. Thromb Haemost 2000; 84: 935-6.
15. Akhavan S, Mannucci PM, Lak M et al. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Thromb Haemost 2000; 84: 989-97.
16. Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation deficiencies. Haemophilia 2002; 8: 308-21.
17. Stenson PD, Ball EV, Mort M et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577-81.
18. Bolton-Maggs PH, Perry DJ, Chalmers EA et al. The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors'Organisation. Haemophilia 2004; 10: 593-628.
19. Strijks E, Poort SR, Renier WO, Gabreels FJ, Bertina RM. Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. Neuropediatrics 1999; 30: 320-4.
20. Peyvandi F, Jayandharan G, Chandy M et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia 2006; 12 (Suppl 3): 82-9.
21. Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiencies. Haemophilia 2001; 7 (Suppl 1): 16-22.
22. http://www.hemophilia.org.
23. http://www.wfh.org.
24. Lobel JS, Majumdar S, Kovats-Bell S. Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). J Pediatr Hematol Oncol 2004; 26: 480-3.
25. http://www.rbdd.org.
26. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
27. Brown K, Luddington R, Williamson D, Baker P, Baglin T. Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3′-untranslated region of the prothrombin gene. Br J Haematol 1997; 98: 907-9.
28. Gerhardt A, Scharf RE, Beckmann MW et al. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med 2000; 342: 374-80.
29. Samama MM, Rached RA, Horellou MH et al. Pregnancy-associated venous thromboembolism (VTE) in combined heterozygous factor V Leiden (FVL) and prothrombin (FII) 20210 A mutation and in heterozygous FII single gene mutation alone. Br J Haematol 2003; 123: 327-34.