Congenital combined defects of factor VII: A critical review

Acta Haematologica

Volumn 117, Issue 1, 2006, Pages 51-56

  Girolami, A ^a,b   Ruzzon, E ^a   Tezza, F ^a   Allemand, E ^a   Vettore, S ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b Department of Medical and Surgical Sciences   (Italy)

Author keywords

Bleeding; Combined defects; Congenital deficiencies; Factor VII; Hemophilia

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; PROTEIN C;

BILIRUBIN METABOLISM; BLEEDING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BRACHYCEPHALY; CAROTID BODY TUMOR; CHROMOSOME 13; CHROMOSOME 13Q; CHROMOSOME ARM; CLEFT PALATE; CONGENITAL BLOOD CLOTTING DISORDER; DUBIN JOHNSON SYNDROME; EPICANTHUS; GILBERT DISEASE; HEARING IMPAIRMENT; HEMOPHILIA; HEMOPHILIA A; HUMAN; MENTAL DEFICIENCY; METABOLIC DISORDER; MICROCEPHALY; PARESTHESIA; PARTIAL THROMBOPLASTIN TIME; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTHROMBIN TIME; REVIEW; SKELETON MALFORMATION; THROMBIN TIME;

ABNORMALITIES; ADOLESCENT; ADULT; AGED, 80 AND OVER; BILIRUBIN; BLOOD COAGULATION DISORDERS, INHERITED; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; COMORBIDITY; FEMALE; HEMOPHILIA A; HEMORRHAGIC DISORDERS; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; PROTEIN C DEFICIENCY; THROMBOPHILIA;

EID: 33845729952     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000096789     Document Type: Review

References (35)

1. Soff GA, Levin J: Familial multiple coagulation factor deficiencies. I. Review of the literature: differentiation of single hereditary disorders associated with multiple factor deficiencies from coincidental concurrence of single factor deficiency states. Semin Thromb Hemost 1981;7:112-148.
2. Soff GA, Levin J, Bell WR: Familial multiple coagulation factor deficiencies. II. Combined factor VIII, IX, and XI deficiency and combined factor IX and XI deficiency: two previously uncharacterized familial multiple factor deficiency syndromes. Semin Thromb Hemost 1981;7:149-169.
3. Girolami A, Bertomoro A, Soldera C, Allemand E, Barillari G: FV deficiency combined with other clotting disorders and with non-coagulation- related abnormalities: a reevaluation of 5 personal cases and review of literature, submitted.
4. Alexander B, Goldstein R, Landweher G, Cook CD: Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. J Clin Invest 1951;30:596-608.
5. Iannello S, Prestipino M, Belfiore F: Genetic deficiency of factor VII and hemorrhagic diathesis. A case report and literature review. Panminerva Med 1998;40:226-238.
6. Blanchette VS, Sparling C, Turner C: Inherited bleeding disorders. Baillieres Clin Haematol 1991;4:291-332.
7. Girolami A, De Marco L, Dal Bo Zanon R, Patrassi G, Cappellato MG: Rarer quantitative and qualitative abnormalities of coagulation. Clin Haematol 1985;14:385-411.
8. Ambriz-Fernandez R, Villasenor A, Reyna MP, Pizzuto J, Guillen C: Coagulation factors V and VII combined congenital deficiency in a Mexican family: Toledo-Tehuantepec deficiency, a new pathological entity. Arch Invest Med (Mex) 1985;16:59-70.
9. Bell WN, Alton HG: Christmas disease associated with factor VII deficiency. Case report with family survey. Brit Med J 1955, pp 330-331.
10. Berube C, Ofosu FA, Kelton JG, Blajchman MA: A novel congenital haemostatic defect: combined factor VII and factor XI deficiency. Blood Coagul Fibrinolysis 1992;2:357-360.
11. Boxus G, Slacmeulder M, Ninane J: Déficit héré ditaire combinéen facteurs VII et X révélépar un allongement du temps de Quick. Arch Pediatr 1997;4:44-47.
12. Takeuchi Y, Saito Y, Ikenouchi H, Sugimoto T, Sugoh T, Sakata Y, Matsuda M, Takamiya O: Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis. Thromb Res 1988;51:117-126.
13. Girolami A, Zanon E, Bertomoro A, Gavasso S, Fadin M: Combined factor V and factor VII deficiency due to an independent segregation of the two defects. Clin Appl Thromb Hemost 1999;2:136-138.
14. Gaston LW, Mach BF, Beck WS: Hemophilia A and concurrent factor VII deficiency. Studies of a patient with complicating cardiac tamponade. N Eng J Med 1961;264:1078-1082.
15. Constandoulakis M: Familial haemophilia and factor VII deficiency. J Clin Pathol 1958;11:412-416.
16. Girolami A, Venturelli R, Cella G, Virgolini L, Burul A: Combined hereditary deficiency of factors VII and VIII: a distinct coagulation disorder due to the 'lack' of an autosomal gene controlling factor VII and VIII activation? Acta Haematol 1976;55:181-191.
17. Rotoli B, D'Avino R, Chiurazzi F: Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors. Acta Haematol 1983;69:117-122.
18. Girolami A, Dal Bo Zanon R, Fabris F, Franzoso R: Combined factor VII and factor VIII deficiency due to a casual association of heterozygosis for factor VII deficiency and hemophilia A. Acta Haematol 1977;58:246-254.
19. Slease RB, Schumacher HR: Deficiency of coagulation factors VII and XII in a patient with Hodgkin's disease. Arch Intern Med 1977;137:1633-1635.
20. Machin SJ, Miller BR: Congenital combined factor VII and factor VIII deficiency. Acta Haematol 1980;63:167-169.
21. Seligsohn U, Shani M, Ramot B, Adam A, Sheba C: Hereditary deficiency of blood clotting factor VII and Dubin-Johnson syndrome in an Israeli family. Isr J Med Sci 1969;5:1060-1065.
22. Seligsohn U, Shani M, Ramot B, Adam A, Sheba C: Dubin-Johnson syndrome in Israel. II. Association with factor-VII deficiency. Q J Med 1970;39:569-572.
23. Seligsohn U, Shani M, Ramot B: Gilbert's syndrome and factor-VII deficiency. Lancet 1970;i:1398.
24. Kroll AJ, Alexander B, Cochios F, Pechet L: Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors. N Engl J Med 1964;270:6-13.
25. Brüster H: Angeborener FVII-Mangel in Kombination mit Osteopsathyrosis idiopathica Typ Lobstein. Monatsschr Kinderheilkd 1959;107:237-239.
26. Dische FE, Benfield V: Congenital factor VII deficiency: haematological and genetic aspects. Acta Haematol 1959;21:257-260.
27. Ott R, Pfeiffer RA: Evidence that activities of coagulation factors VII and X are linked to chromosome 13 (q34). Hum Hered 1984;34:123-126.
28. 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;62:358-360.
29. Battin J, Serville F, Mullon MH, Mateille N: De novo del (13) (q31.1-qter) in a girl. Effect of gene dosage on blood coagulation factors VII and X (in French). J Genet Hum 1988;36:307-314.
30. Kasai R, Narahara K, Namba H, Tsuji K, Matsubara T, Hiramoto K, Yokoyama Y, Kimoto H: Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13). Jinrui Idengaku Zasshi Genet 1989;34:247-250.
31. Elodi S, Puskas E: Variants of haemophilia B. Thromb Diath Haemorrh 1972;28:489-495.
32. Elodi S: Studies on the prolonged prothrombin time in haemophilia BM. Thromb Diath Haemorrh 1973;29:247-252.
33. Girolami A, Sticchi A, Burul A, Zanon RD: An immunological investigation of hemophilia B with a tentative classification of the disease into five variants. Vox Sang 1977;32:230-238.
34. Hall CA, London AR, Moynihan AC, Dodds WJ: Hereditary factor VII and IX deficiencies in a large kindred. Br J Haematol 1975;29:319-328.
35. Girolami A, Dal Bo Zanon R, De Marco L, Cappellato G: Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen. Blut 1980;40:267-273.