Determinants of factor VIII plasma levels in carriers of haemophilia A and in control women

Haemophilia

Volumn 16, Issue 1, 2010, Pages 111-117

  Ay, C ^a   Thom, K ^a   Abu Hamdeh, F ^a   Horvath, B ^a   Quehenberger, P ^a   Male, C ^a   Mannhalter, C ^a   Pabinger, I ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Bleeding; Carrier; Factor VIII; Haemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8; C REACTIVE PROTEIN; DNA; FIBRINOGEN; PROTHROMBIN; VON WILLEBRAND FACTOR;

ADULT; AGE; ARTICLE; BLOOD GROUP ABO SYSTEM; BLOOD SAMPLING; BODY MASS; CIGARETTE SMOKING; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEMOPHILIA A; HEREDITY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTHROMBIN TIME;

ABO BLOOD-GROUP SYSTEM; ADULT; BODY MASS INDEX; C-REACTIVE PROTEIN; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; FIBRINOGEN; HEMOPHILIA A; HUMANS; INTRONS; MIDDLE AGED; SEQUENCE INVERSION; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 73949125219     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02108.x     Document Type: Article

References (28)

1. Wahlberg T. Carriers and noncarriers of haemophilia A. Evaluation of bleeding symptoms registered by a self-administered questionnaire with binary (no/yes) questions. Thromb Res 1982, 25:415-22.
2. Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH. Bleeding in carriers of hemophilia. Blood 2006, 108:52-6.
3. Wahlberg T, Blomback M, Brodin U. Carriers and noncarriers of haemophilia A: I. Multivariate analysis of pedigree data, screening blood coagulation tests and factor VIII variables. Thromb Res 1982, 25:401-14.
4. Mauser Bunschoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, van Dijken PJ, Kok AJ, Sixma JJ. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988, 59:349-52.
5. De Visser MC, Sandkuijl LA, Lensen RP, Vos HL, Rosendaal FR, Bertina RM. Linkage analysis of factor VIII and von Willebrand factor loci as quantitative trait loci. J Thromb Haemost 2003, 1:1771-6.
6. Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet 1985, 37:89-101.
7. Saenko EL, Yakhyaev AV, Mikhailenko I, Strickland DK, Sarafanov AG. Role of the low density lipoprotein-related protein receptor in mediation of factor VIII catabolism. J Biol Chem 1999, 274:37685-92.
8. Neels JG, Bovenschen N, van Zonneveld AJ, Lenting PJ. Interaction between factor VIII and LDL receptor-related protein. Modulation of coagulation? Trends Cardiovasc Med 2000, 10:8-14.
9. Bovenschen N, Herz J, Grimbergen JM. Elevated plasma factor VIII in a mouse model of low-density lipoprotein receptor-related protein deficiency. Blood 2003, 101:3933-9.
10. Morange PE, Tregouet DA, Frere C. Biological and genetic factors influencing plasma factor VIII levels in a healthy family population: results from the Stanislas cohort. Br J Haematol 2005, 128:91-9.
11. Lyon MF. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962, 14:135-48.
12. O'Donnell J, Boulton FE, Manning RA, Laffan MA. Amount of H antigen expressed on circulating von Willebrand factor is modified by ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels. Arterioscler Thromb Vasc Biol 2002, 22:335-41.
13. O'Donnell J, Laffan MA. The relationship between ABO histo-blood group, factor VIII and von Willebrand factor. Transfus Med 2001, 11:343-51.
14. Graham JB, Rizza CR, Chediak J. Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype. Blood 1986, 67:1554-9.
15. Tirado I, Mateo J, Soria JM. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. Thromb Haemost 2005, 93:468-74.
16. Souto JC, Almasy L, Muniz-Diaz E. Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol 2000, 20:2024-8.
17. Rodeghiero F, Castaman G, Tosetto A. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2005, 3:2619-26.
18. Vormittag R, Bencur P, Ay C. Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism. J Thromb Haemost 2007, 5:497-502.
19. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998, 92:1458-9.
20. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002, 99:168-74.
21. Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb Haemost 2001, 85:580-3.
22. Viel KR, Machiah DK, Warren DM. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood 2007, 109:3713-24.
23. Rizza CR, Rhymes IL, Austen DE, Kernoff PB, Aroni SA. Detection of carriers of haemophilia: a 'blind' study. Br J Haematol 1975, 30:447-56.
24. Conlan MG, Folsom AR, Finch A. Associations of factor VIII and von Willebrand factor with age, race, sex, and risk factors for atherosclerosis. The Atherosclerosis Risk in Communities (ARIC) Study. Thromb Haemost 1993, 70:380-5.
25. Folsom AR, Wu KK, Rosamond WD, Sharrett AR, Chambless LE. Prospective study of hemostatic factors and incidence of coronary heart disease: the Atherosclerosis Risk in Communities (ARIC) Study. Circulation 1997, 96:1102-8.
26. Belch JJ, McArdle BM, Burns P, Lowe GD, Forbes CD. The effects of acute smoking on platelet behaviour, fibrinolysis and haemorheology in habitual smokers. Thromb Haemost 1984, 51:6-8.
27. Morelli VM, de Visser MC, van Tilburg NH. ABO blood group genotypes, plasma von Willebrand factor levels and loading of von Willebrand factor with A and B antigens. Thromb Haemost 2007, 97:534-41.
28. Favier R, Lavergne JM, Costa JM. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000, 96:4373-5.