1. Owren PA. Parahaemophilia; haemorrhagic diathesis due to absence of a previously unknown clotting factor. Lancet 1947;1:446-8.
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.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
