Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era

Haemophilia

Volumn 17, Issue 1, 2011, Pages 17-20

  Girolami, A ^a   Vettore, S ^a   Scarparo, P ^a   Lombardi, A M ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Activation; Activity; Antigen; Classification; Factor X deficiency

Indexed keywords

BLOOD CLOTTING FACTOR 10; PEPTIDE; PROPEPTIDE; UNCLASSIFIED DRUG;

BIOASSAY; BLOOD CLOTTING ASSAY; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CHROMOGENIC ASSAY; CHROMOSOME 13; DISEASE CLASSIFICATION; ENZYME ACTIVE SITE; GENE DELETION; GLA DOMAIN; HUMAN; IMMUNOLOGIC ASSAY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; VALIDITY;

BLOOD COAGULATION; CHROMOGENIC COMPOUNDS; FACTOR X DEFICIENCY; HUMANS; MUTATION;

EID: 79951885278     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02328.x     Document Type: Review

References (38)

1. Graham JB. Stuart factor: discovery and designation as factor X. J Thromb Haemost 2003; 1: 871-2.
2. Denson KW. The discovery of factor X. J Thromb Haemost 2004; 2: 188-9.
3. Hougie C. The discovery of factor X. J Thromb Haemost 2004; 2: 189-91.
4. Girolami A. The discovery of factor X. J Thromb Haemost 2004; 2: 187-8.
5. Bachmann F. The discovery of factor X: a personal reminiscence. Thromb Haemost 2007; 98: 16-9.
6. Telfer TP, Denson KW, Wright DR. A new coagulation defect. Br J Haematol 1956; 2: 308-16.
7. 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.
8. Bachmann F, Duckert F, Flückiger P, Hitzig W, Koller F. Uber einen neuartigen kongenitalen gerinnungs defect (Mangel an Stuart Faktor). Thromb Diath Haemorrh 1957; 1: 87-92.
9. Watzke HH, High KA. Factor X. In: High KA, Roberts HR eds. Molecular Basis of Thrombosis and Hemostasis. New York, NY: Marcel Dekker Inc., 1995: 239.
10. James HL. Physiology and biochemistry of factor X. In: Bloom A, Forles C, Thomas D, Tuddenham F eds. Haemostasis and Thrombosis. Edinburgh: Churchill & Livingstone, 1994: 433-40.
11. Cooper DN, Millar DS, Wacey A, Pemberton S, Tuddenham EG. Inherited factor X deficiency: molecular genetics and pathophysiology. Thromb Haemost 1997; 78: 161-72.
12. Uprichard J, Perry DJ. Factor X deficiency. Blood Rev 2002; 16: 97-110.
13. Giangrande PL. Six characters in search of an author: the history of the nomenclature of coagulation factors. Br J Haematol 2003; 121: 703-12.
14. Denson KW. Abnormal forms of factor X. Lancet 1969; 2: 1256.
15. Girolami A, Molaro G, Lazzarin M, Scarpa R, Brunetti A. A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred. Br J Haematol 1970; 19: 179-92.
16. Parkin JD, Madaras F, Sweet B, Castaldi PA. A further inherited variant of coagulation factor X. Aust N Z J Med 1974; 4: 561-4.
17. Rabiner SF, Kretchmer N. The Stuart-Prower factor: utilization of clotting factors obtained by Starch-Block electrophoresis for genetic evaluation. Br J Haematol 1961; 7: 99-111.
18. Bertina RM, Alderkamp GI, de Nogy F. A variant of factor X that is detective only in extrinsic coagulation. Thromb Haemost 1981; 46: 88a.
19. Girolami A, Vicarioto M, Ruzza G, Cappellato G, Vergolani A. Factor X Padua: a 'new' congenital factor X abnormality with a defect only in the extrinsic system. Acta Haematol 1985; 73: 31-6.
20. Nora RE, Bell WR, Noe DA, Sholar PW. Novel factor X deficiency: normal partial thromboplastin time and associated spindle cell thymoma. Am J Med 1985; 79: 122-6.
21. Fair DS, Edgington TS. Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analyses. Br J Haematol 1985; 59: 235-48.
22. Girolami A. Tentative and updated classification of factor X variants. Acta Haematol 1986; 75: 58-9.
23. Girolami A, Simioni P, Ruzza G. Classification of congenital FX deficiency and abnormalities. Ann Saudi Med 1990; 10: 218-9.
24. James HL, Girolami A, Fair DS. Molecular defect in coagulation factor X friuli results from a substitution of serine for proline at position 343. Blood 1991; 77: 317-23.
25. + binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua. Clin Appl Thromb Hemost 2004; 10: 5-8.
26. Girolami A, Scarparo P, Scandellari R, Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. Am J Hematol 2008; 83: 668-71.
27. Girolami A, Scapin M, Scarparo P, Vettore S. Different genotypes are responsible for the normal russell viper venom assays seen in some cases of congenital factor X deficiency. Am J Hematol 2008; 83: 884-5.
28. Girolami A, Scarparo P, Vettore S, Candeo N, Scandellari R, Lombardi AM. Unexplained discrepancies in the activity-antigen ratio in congenital FX deficiencies with defects in the catalytic domain. Clin Appl Thromb Hemost 2009; 15: 621-7.
29. 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.
30. Herrmann FH, Auerswald G, Ruiz-Saez A 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.
31. Bezeaud A, Miyata T, Helley D et al. Functional consequences of the Ser334->pro mutation in a human factor X variant (factor X marseille). Eur J Biochem 1995; 234: 140-7.
32. Odom MW, Leone G, De Stefano V et al. Five novel point mutations: two causing haemophilia B and three causing factor X deficiency. Mol Cell Probes 1994; 8: 63-5.
33. Girolami A, Ruzzon E, Tezza F, Scandellari R, Scapin M, Scarparo P. Congenital FX deficiency combined with other clotting defects or with other abnormalities: a critical evaluation of the literature. Haemophilia 2008; 14: 323-8.
34. Peyvandi F, Menegatti M, Santagostino E et al. Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. Br J Haematol 2002; 117: 685-92.
35. Menegatti M, Karimi M, Garagiola I, Mannucci P, Peyvandi F. A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency. Am J Hematol 2004; 77: 90-1.
36. Pfeiffer RA, Ott R, Gilgenkrantz S, Alexandre P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46, XY, t(13;Y)(q11;q34). Hum Genet 1982; 62: 358-60.
37. Chilcott JL, Russell G, Mumford AD. Combined deficiency of factors VII and X: clinical description of two cases and management of spinal surgery. Haemophilia 2006; 12: 555-8.
38. De Stefano V, Leone G, Ferrelli R, Hassan HJ, Macioce G, Bizzi B. Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation. Br J Haematol 1988; 69: 387-91.