Factor X Deficiency


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

2.         Roberts H, Bingham M. Other coagulation factor deficiencies.  Thrombosis and Haemorrhage. Second ed. Philadelphia, PA: Lippincott Williams and Wilkins, 1998: 773-802.

3.         Duckert F, Fluckiger P, Matter M, Roller F. Clotting Factor X. Physiologic and Physico-Chemical Properties. Proc Soc Exp Biol Med. 1955;90:17-22.

4.         Telfer TP, Denson KW, Wright DR. A ‘New’ Coagulation Defect. Br J Haematol. 1956;2:308-16.

5.         Hougie C, Barrow EM, Graham JB. Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called “stable factor”(SPCA, proconvertin, factor VII) deficiency. J Clin Invest. 1957;36:485-96.

6.         Rezaie AR, Manithody C, Yang L. Identification of Factor Xa Residues Critical for Interaction with Protein Z-dependent Protease Inhibitor: both active site and exosite interactions are required for inhibition. J Biol Chem. 2005;280:32722-8.

7.         Razzari C, Martinelli I, Bucciarelli P, Viscardi Y, Biguzzi E. Polymorphisms of the protein Z-dependent protease inhibitor (ZPI) gene and the risk of venous thromboembolism. Thromb Haemost. 2006;95:909-10.

8.         Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost. 2009;35:407-15.

9.         Scambler P, Williamson R. The structural gene for human coagulation factor X is located on chromosone 13q34. Cytogenet Cell Genet. 1985;39:231-3.

10.       Dewerchin M, Liang Z, Moons L, Carmeliet P, Castellino FJ, Collen D, et al. Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. Thromb Haemost. 2000;83:185-90.

11.       Livnat T, Shenkman B, Kenet G, Tamarin I, Gillis S, Varon D, et al. Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry. Blood Coagul Fibrinolysis. 2011;22:673-9.

12.       Hu Z, Liu Y, Huarng MC, Menegatti M, Reyon D, Rost MS, et al. Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway. Blood. 2017;130:666-76.

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

14.       Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, et al. Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Human genetics. 2000;106:249-57.

15.       Herrmann F, Auerswald G, Ruiz‐Saez A, Navarrete M, Pollmann H, Lopaciuk S, et al. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia. 2006;12:479-89.

16.       Corsini I, Menegatti M, Cairo A, Dani C. Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up. Blood Coagul Fibrinolysis. 2015;26:679-81.

17.       Matsuo Y, Mizuochi T, Miho M, Nakagawa S, Ozono S, Ueda K, et al. Factor X Deficiency with Heterozygous Mutations of Novel p. G435S and Known p. G244R in a Patient Presenting with Severe Umbilical Hemorrhage. Kurume Med J. 2016;63:23-8.

18.       Peyvandi F, Mannucci PM, Lak M, Abdoullahi M, Zeinali S, Sharifian R, et al. Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. Br J Haematol. 1998;102:626-8.

19.       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.

20.       Bolton-Maggs P, Perry D, Chalmers E, Parapia L, Wilde J, Williams M, et al. The rare coagulation disorders–review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation. Haemophilia. 2004;10:593-628.

21.       Karimi M, Yarmohammadi H, Ardeshiri R, Yarmohammadi H. Inherited coagulation disorders in southern Iran. Haemophilia. 2002;8:740-4.

22.       Anwar M, Hamdani S, Ayyub M, Ali W. Factor X deficiency in North Pakistan. J Ayub Med Coll Abbottabad. 2004;16:1-4.

23.       Peyvandi F, Di Michele D, Bolton-Maggs PH, Lee CA, Tripodi A, Srivastava A, et al. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost. 2012;10:1938-43.

24.       Peyvandi F, Palla R, Menegatti M, Siboni SM, 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.

25.       Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction: Rare Bleeding Disorders: General Aspects of Clinical Features, Diagnosis, and Management. Semin Thromb Hemost. 2009;35:349-55.

26.       Mishra P, Naithani R, Dolai T, Bhargava R, Mahapatra M, Dixit A, et al. Intracranial haemorrhage in patients with congenital haemostatic defects. Haemophilia. 2008;14:952-5.

27.       Diesch T, von der Weid NX, Schifferli A, Kühne T. Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20‐Month‐Old Male: Case Report and Review of the Literature. Pediatr Blood Cancer. 2016;63:1300-4.

28.       Girolami A, Allemand E, Scandellari R, Lombardi AM, Girolami B. The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain. Hematology. 2009;14:177-81.

29.       Karimi M, Menegatti M, Afrasiabi A, Sarikhani S, Peyvandi F. Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. Haematologica. 2008;93:934-8.

30.       Perry DJ. Factor X and its deficiency states. Haemophilia. 1997;3:159-72.

31.       Graham JB, Barrow EM, Hougie C. Stuart Clotting Defect. II. Genetic Aspects of aNew’Hemorrhagic State. J Clin Invest. 1957;36:497-503.

32.       Girolami A, Cosi E, Santarossa C, Ferrari S, Girolami B, Lombardi AM. Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched versus 128 unaffected family members, during a long sequential observation period (23.5 years). Eur J Haematol. 2016;97:547-53.

33.       Condie RG. A serial study of coagulation factors XII, XI and X in plasma in normal pregnancy and in pregnancy complicated by pre-eclampsia. Br J Obstet Gynaecol. 1976;83:636-9.

34.       Klajnbard A, Szecsi Pal B, Colov Nina P, Andersen Malene R, Jørgensen M, Bjørngaard B, et al. Laboratory reference intervals during pregnancy, delivery and the early postpartum period.  Clin Chem Lab Med, 2010: 237.

35.       Romagnolo C, Burati S, Ciaffoni S, Fattori E, Franchi M, Zanon E, et al. Severe factor X deficiency in pregnancy: case report and review of the literature. Haemophilia. 2004;10:665-8.

36.       Nance D, Josephson NC, Paulyson-Nunez K, James AH. Factor X deficiency and pregnancy: preconception counselling and therapeutic options. Haemophilia. 2012;18:e277-85.

37.       Teixeira PS, Oliveira PS, Guerra JC, Hamerschlak N, Colombini MP, Kalil R. Factor X deficiency and pregnancy: case report and counselling. Haemophilia. 2012;18:e11-2.

38.       Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM, et al. Development of the human coagulation system in the full-term infant. Blood. 1987;70:165-72.

39.       Boggio L, Green D. Recombinant human factor VIIa in the management of amyloid-associated factor X deficiency. Br J Haematol. 2001;112:1074-5.

40.       Uprichard J, Perry DJ. Factor X deficiency. Blood Rev. 2002;16:97-110.

41.       Girolami A, Vettore S, Scarparo P, Lombardi AM. Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era. Haemophilia. 2011;17:17-20.

42.       Austin SK, Brindley C, Kavakli K, Norton M, Shapiro A, Group FXI. Pharmacokinetics of a high-purity plasma-derived factor X concentrate in subjects with moderate or severe hereditary factor X deficiency. Haemophilia. 2016;22:426-32.

43.       Austin SK, Kavakli K, Norton M, Peyvandi F, Shapiro A, Group FXI. Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. Haemophilia. 2016;22:419-25.

44.       Shapiro A. Plasma-derived human factor X concentrate for on-demand and perioperative treatment in factor X-deficient patients: pharmacology, pharmacokinetics, efficacy, and safety. Expert Opin Drug Metab Toxicol. 2017;13:97-104.

45.       Escobar MA, Auerswald G, Austin S, Huang JN, Norton M, Millar CM. Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery. Haemophilia. 2016;22:713-20.

46.       Liesner R, Akanezi C, Norton M, Payne J. Prophylactic treatment of bleeding episodes in children <12 years with moderate to severe hereditary factor X deficiency (FXD): Efficacy and safety of a high-purity plasma-derived factor X (pdFX) concentrate.  Haemophilia. 2018 Nov;24(6):941-949.

47.       Karimi M, Vafafar A, Haghpanah S, Payandeh M, Eshghi P, Hoofar H, et al. Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran. Haemophilia. 2012;18:211-5.

48.       Fraser IS, Porte RJ, Kouides PA, Lukes AS. A Benefit-Risk Review of Systemic Haemostatic Agents. Drug Safety. 2008;31:275-82.

49.       Hrometz SL. Oral modified-release tranexamic acid for heavy menstrual bleeding. Ann Pharmacother. 2012;46:1047-53.

50.       Knight RD, Barr CF, Alving BM. Replacement therapy for congenital Factor X deficiency. Transfusion. 1985;25:78-80.

51.       Sandler E, Gross S. Prevention of recurrent intracranial hemorrhage in a factor X-deficient infant. Am J Pediatr Hematol Oncol. 1992;14:163-5.

52.       Kouides PA, Kulzer L. Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate. Haemophilia. 2001;7:220-3.

53.       Auerswald G. Prophylaxis in rare coagulation disorders — factor X deficiency. Thromb Res. 2006;118 Suppl 1:S29-31.

54.       Sumer T, Ahmad M, Sumer NK, Al-Mouzan MI. Severe congenital factor X deficiency with intracranial haemorrhage. Eur J Pediatr. 1986;145:119-20.

55.       McMahon C, Smith J, Goonan C, Byrne M, Smith OP. The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency. Br J Haematol. 2002;119:789-91.

56.       Rauch R, Girisch M, Wiegand G, Schroeder W, Hofbeck M, Welisch E, et al. Factor X deficiency and intracranial bleeding: who is at risk? Haemophilia. 2011;17:759-63.

57.       Kulkarni R, James AH, Norton M, Shapiro A. Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in women and girls with hereditary factor X deficiency. J Thromb Haemost. 2018;16:849-57.

58.       James A, Shapiro A, Norton M. Pharmacokinetics, safety, and efficacy of a new high-purity plasma-derived factor X concentrate in female subjects with hereditary factor X deficiency. Haemophilia. 2016;22:136.