Factor V Deficiency

References

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2.         Kingsley CS. Familial factor V deficiency: the pattern of heredity. Q J Med 1954;23:323-9.

3.         Stormorken H. The discovery of factor V: a tricky clotting factor. J Thromb Haemost 2003;1:206-13.

4.         Jenny RJ, Pittman DD, Toole JJ, et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci U S A 1987;84:4846-50.

5.         Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992;31:3777-85.

6.         Kalafatis M. Coagulation factor V: a plethora of anticoagulant molecules. Curr Opin Hematol 2005;12:141-8.

7.         Asselta R, Tenchini ML, Duga S. Inherited defects of coagulation factor V: the hemorrhagic side. J Thromb Haemost 2006;4:26-34.

8.         Gertz JM, Bouchard BA. Mechanisms Regulating Acquisition of Platelet-Derived Factor V/Va by Megakaryocytes. J Cell Biochem 2015;116:2121-6.

9.         Bos MH, Camire RM. A bipartite autoinhibitory region within the B-domain suppresses function in factor V. J Biol Chem 2012;287:26342-51.

10.       Murray JM, Rand MD, Egan JO, Murphy S, Kim HC, Mann KG. Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity. Blood 1995;86:1820-7.

11.       Thalji N, Camire RM. Parahemophilia: new insights into factor v deficiency. Semin Thromb Hemost 2013;39:607-12.

12.       Vos HL. An online database of mutations and polymorphisms in and around the coagulation factor V gene. J Thromb Haemost 2007;5:185-8.

13.       Camire RM. A new look at blood coagulation factor V. Curr Opin Hematol 2011;18:338-42.

14.       Caudill JS, Sood R, Zehnder JL, Pruthi RK, Steensma DP. Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q. J Thromb Haemost 2007;5:626-8.

15.       Cui J, O’Shea KS, Purkayastha A, Saunders TL, Ginsburg D. Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature 1996;384:66-8.

16.       Castoldi E, Lunghi B, Mingozzi F, et al. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica 2001;86:629-33.

17.       Duckers C, Simioni P, Spiezia L, et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood 2010;115:879-86.

18.       Talbot K, Song J, Hewitt J, et al. A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V. Br J Haematol 2010;151:198-200.

19.       Castoldi E, Duckers C, Radu C, et al. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. J Thromb Haemost 2011;9:959-68.

20.       Spiezia L, Radu C, Bulato C, et al. Platelet factor V levels in moderate to severe congenital factor V deficiency. Haemophilia 2012;18:e53-5.

21.       Streiff MB, Ness PM. Acquired FV inhibitors: a needless iatrogenic complication of bovine thrombin exposure. Transfusion 2002;42:18-26.

22.       Franchini M, Lippi G. Acquired factor V inhibitors: a systematic review. J Thromb Thrombolysis 2011;31:449-57.

23.       Lee WS, Chong LA, Begum S, Abdullah WA, Koh MT, Lim EJ. Factor V inhibitor in neonatal intracranial hemorrhage secondary to severe congenital factor V deficiency. J Pediatr Hematol Oncol 2001;23:244-6.

24.       Acharya SS, Coughlin A, Dimichele DM, North American Rare Bleeding Disorder Study G. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004;2:248-56.

25.       Janeway CM, Rivard GE, Tracy PB, Mann KG. Factor V Quebec revisited. Blood 1996;87:3571-8.

26.       Zhang B, McGee B, Yamaoka JS, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006;107:1903-7.

27.       Lak M, Sharifian R, Peyvandi F, Mannucci PM. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol 1998;103:1067-9.

28.       Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-52.

29.       Reverdiau-Moalic P, Delahousse B, Body G, Bardos P, Leroy J, Gruel Y. Evolution of blood coagulation activators and inhibitors in the healthy human fetus. Blood 1996;88:900-6.

30.       Ajzner EE, Balogh I, Szabo T, Marosi A, Haramura G, Muszbek L. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. Blood 2002;99:702-5.

31.       Chingale A, Eisenhut M, Gadiraju A, Liesner R. A neonatal presentation of factor V deficiency: a case report. BMC Pediatr 2007;7:8.

32.       Ehrenforth S, Klarmann D, Zabel B, Scharrer I, Kreuz W. Severe factor V deficiency presenting as subdural haematoma in the newborn. Eur J Pediatr 1998;157:1032.

33.       Salooja N, Martin P, Khair K, Liesner R, Hann I. Severe factor V deficiency and neonatal intracranial haemorrhage: a case report. Haemophilia 2000;6:44-6.

34.       Totan M, Albayrak D. Intracranial haemorrhage due to factor V deficiency. Acta Paediatr 1999;88:342-3.

35.       Whitelaw A, Haines ME, Bolsover W, Harris E. Factor V deficiency and antenatal intraventricular haemorrhage. Arch Dis Child 1984;59:997-9.

36.       Nuzzo F, Beshlawi I, Wali Y, Castoldi E. High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations. Br J Haematol 2017;179:163-6.

37.       Yoneoka Y, Ozawa T, Saitoh A, Arai H. Emergency evacuation of expanding intracerebral haemorrhage in parahaemophilia (coagulation factor V deficiency). Acta Neurochir (Wien) 1999;141:667-8.

38.       Naderi M, Tabibian S, Shamsizadeh M, Dorgalaleh A. Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. Int J Hematol 2016;103:673-5.

39.       Schrijver I, Koerper MA, Jones CD, Zehnder JL. Homozygous factor V splice site mutation associated with severe factor V deficiency. Blood 2002;99:3063-5.

40.       Baron BW, Mittendorf R, Baron JM. Presurgical plasma exchange for severe factor V deficiency. J Clin Apher 2001;16:29-30.

41.       Gonzalez-Boullosa R, Ocampo-Martinez R, Alarcon-Martin MJ, Suarez-Rodriguez M, Dominguez-Viguera L, Gonzalez-Fajo G. The use of activated recombinant coagulation factor VII during haemarthroses and synovectomy in a patient with congenital severe factor V deficiency. Haemophilia 2005;11:167-70.

42.       Coppola A, Maruotti GM, Feola G, et al. Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions. Haemophilia 2010;16:560-3.

43.       Petros S, Fischer J, Mossner J, Schiefke I, Teich N. Treatment of massive cecal bleeding in a 28-Year-old patient with homozygous factor V deficiency with activated factor VII. Z Gastroenterol 2008;46:271-3.

44.       Ardillon L, Lefrancois A, Graveleau J, et al. Management of bleeding in severe factor V deficiency with a factor V inhibitor. Vox Sang 2014;107:97-9.

45.       Gavva C, Yates SG, Rambally S, Sarode R. Transfusion management of factor V deficiency: three case reports and review of the literature. Transfusion 2016;56:1745-9.

46.       Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. Haemophilia 2005;11:26-30.

47.       Iwase A, Goto M, Manabe S, et al. Successful fertility management of a patient with factor V deficiency: planned transfusion of fresh frozen plasma under infertility treatment. Fertil Steril 2011;95:2124 e5-7.

48.       Younesi MR, Aligoudarzi SL. Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. Haemophilia 2013;19:e318-20.

49.       Chediak J, Ashenhurst JB, Garlick I, Desser RK. Successful management of bleeding in a patient with factor V inhibitor by platelet transfusions. Blood 1980;56:835-41.

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