Combined Factor V and Factor VIII Deficiency


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2.         Nichols W, Seligsohn U, Zivelin A, Terry V, Arnold N, Siemieniak D, et al. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest. 1997;99:596-601.

3.         Nichols W, Seligsohn U, Zivelin A, Terry V, Hertel C, Wheatley M, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998;93:61-70.

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5.         Zhang B, Kaufman R, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation fator VIII in the early secretory pathway. J Biol Chem. 2005;280:25881-6.

6.         Zhang B, McGee B, Yamaoka J, Guglielmone H, Downes K, Minoldo S, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN 1 or MCFD2. Blood 2006;107:903-7.

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9.         Guy J, Wigren E, Svard M, Hard T, Lindqvist Y. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. J Mol Bio. 2008;2008:941-55.

10.       Cunningham M, Pipe S, Zhang B, Hauri H, Ginsburg D, Kaufman R. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. J Thromb Haemost. 2003;1:2360-7.

11.       Nishio M, Kamiya Y, Mizushima T, Wakatsuki S, Sasakawa H, Yamamoto K, et al. Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency Proc Natl Acad Sci USA. 2010;107.

12.       Zheng C, Page RC, Das V, Nix JC, Wigren E, Misra S, et al. Structural Characterization of Carbohydrate Binding by LMAN1 Protein Provides New Insight into the Endoplasmic Reticulum Export of Factors V (FV) and VIII (FVIII). J Biol Chem. 2013;288:20499-509.

13.       Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan M, et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 2008;111:5592-600.

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

15.       Mansouritorghabeh H, Manavifar L, Banihashem A, Modaresi A, Shirdel A, Shahroudian M, et al. An investigation of the spectrum of common and rare inherited coagulation disorders in North-Eastern Iran. Blood Transfusion. 2013;11:233-40.

16.       Spreafico M, Peyvandi F. Combined FV and FVIII deficiency Haemophilia 2008;14:1201-8.

17.       Neerman-Arbez M, Antonarakis S, Blouin J, Zeinali S, Akhtari M, Afshar Y, et al. The locus for combined factor V- factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet. 1997;61:143-50.

18.       Peyvandi F, Tuddenham E, Akhtari M, Lak M, PM M. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol. 1998;100:773-6.

19.       Seligsohn U, Zivelin A, Zwang E. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med. 1982;307:1191-5.

20.       Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation deficiencies. Haemophilia. 2002;8:308-21.

21.       Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah A, Rezai J, Esamaili H. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia. 2004;10:271-5.

22.       Abdullah WZ, Ismail R, Nasir A, Mohamad N, Hassan R. Developmental Haemostasis for Factor V and Factor VIII Levels in Neonates: A Case Report of Spontaneous Cephalhaematoma. Fetal Pediatr Pathol. 2013;32:77-81.

23.       Spiliopoulos D, Kadir RA. Congenital factor V and VIII deficiency in women: a systematic review of literature and report of two new cases. Blood Coagul Fibrinolysis. 2016;27:237-41.

24.       Karimi M, Haghpanah S, Amirhakimi A, Afrasiabi A, Dehbozorgian J, Nasirabady S. Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory. Blood Coagul Fibrinolysis. 2009;20:642-5.

25.       Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J, et al. Guideline for the diagnosis and management of the rare coagulation disorders. Br J Haematol. 2014;167:304-26.

26.       Peyvandi F, Palla R, Menegatti M, Siboni S, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012;10:615-21.

27.       Bolton-Maggs PHB, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, et al. The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation. Haemophilia. 2004;10:593-628.

28.       Tarantino MD, Ross MP, Daniels TM, Nichols WL. Modulation of an Acquired Coagulation Factor V Inhibitor with Intravenous Immune Globulin. J Pediatr Hematol Oncol. 1997;19:226-31.

29.       Mansouritorghabeh H, Shirdel A. Desmopressin acetate as a haemostatic elevator in individuals with combined deficiency of factors V and VIII: a clinical trial. J Thromb Haemost. 2016;14:336-9.

30.       Mathias M, Tunstall O, Khair K, Liesner R. Management of surgical procedures in children with severe FV deficiency: experience of 13 surgeries. Haemophilia. 2013;19:256-8.

31.       Salooja, Martin, Khair, Liesner, Hann. Severe factor V deficiency and neonatal intracranial haemorrhage: a case report. Haemophilia. 2000;6:44-6.

32.       Lee C, Chi C, Pavord S, Bolton-Maggs P, Pollard D, Hinchcliffe-Wood A, et al. The obstetric and gynaecological management of women with inherited bleeding disorders-review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ Organization. Haemophilia. 2006;12:301-36.

33.       Brown L, Tilzer L, Plapp F. Factor V and VIII deficiency treated with therapeutic plasma exchange prior to redo mitral valve replacement. J Clin Apher. 2017;32:196-9.

34.       Lanchon R, Robin F, Brissaud O, Marro M, Nouette-Gaulain K. Factor V and VIII combined deficiency: Clinical perioperative management for tonsillectomy in a child. Ann Fr Anesth Reanim. 2014;33:e43-e5.

35.       Wang A, Duan Q, Ding K, Liu X, Wu J, Sun Z. Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1. Haemophilia. 2015;21:e492-e4.

36.       Bulato C, Novembrino C, Anzoletti MB, Spiezia L, Gavasso S, Berbenni C, et al. “In vitro” correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate. Haemophilia. 2018;24:648-56.