OMIA:000437-9823 : Haemophilia A in Sus scrofa (pig)

In other species: crab-eating macaque , dog , domestic cat , horse , taurine cattle , sheep

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 306700 (trait) , 300841 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Also called factor VIII deficiency. Impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked. As with haemophilia B, this expectation has been confirmed in all species of mammal in which the disorder has been reported. In humans, there are hundreds of different mutations that give rise to haemophilia A. In domesticated animals, the disorder has been reported in a large range of species.

Species-specific description: Kashiwakura et al. (2012) produced a cloned line of F8 knock-out pigs, which appear to provide a very good model for human haemophilia A.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000437-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021 Arruda, V.R., Weber, J., Samelson-Jones, B.J. :
Gene therapy for inherited bleeding disorders. Semin Thromb Hemost 47:161-173, 2021. Pubmed reference: 33636747. DOI: 10.1055/s-0041-1722862.
2016 Yen, C.T., Fan, M.N., Yang, Y.L., Chou, S.C., Yu, I.S., Lin, S.W. :
Current animal models of hemophilia: the state of the art. Thromb J 14:22, 2016. Pubmed reference: 27766048. DOI: 10.1186/s12959-016-0106-0.
2015 Lillicrap, D., Schiviz, A., Apostol, C., Wojciechowski, P., Horling, F., Lai, C.K., Piskernik, C., Hoellriegl, W., Lollar, P. :
Porcine recombinant factor VIII (Obizur; OBI-1; BAX801): product characteristics and preclinical profile. Haemophilia , 2015. Pubmed reference: 26278557. DOI: 10.1111/hae.12784.
2012 Kashiwakura, Y., Mimuro, J., Onishi, A., Iwamoto, M., Madoiwa, S., Fuchimoto, D., Suzuki, S., Suzuki, M., Sembon, S., Ishiwata, A., Yasumoto, A., Sakata, A., Ohmori, T., Hashimoto, M., Yazaki, S., Sakata, Y. :
Porcine model of hemophilia a. PLoS One 7:e49450, 2012. Pubmed reference: 23209578. DOI: 10.1371/journal.pone.0049450.
2002 Aledort, L.M. :
The role of porcine factor VIII in the management of unexpected bleeding episodes Haemophilia 8:17-19, 2002. Pubmed reference: 11882078.
Ashrani, A.A., Reding, M.T., Greeno, E.W., Shet, A., Key, N.S. :
Thrombotic stroke associated with the use of porcine factor VIII in a patient with acquired haemophilia Haemophilia 8:56-58, 2002. Pubmed reference: 11886466.
DiMichele, D.M., Gorman, P.O., Kasper, C.K., Mannucci, P.M., Santagostino, E., Hay, C.R.M. :
Continuous infusion of porcine factor VIII: stability, microbiological safety and clinical experience Haemophilia 8:9-12, 2002. Pubmed reference: 11882076.
Doering, C.B., Healey, J.F., Parker, E.T., Barrow, R.T., Lollar, P. :
High level expression of recombinant porcine coagulation factor VIII Journal of Biological Chemistry 277:38345-38349, 2002. Pubmed reference: 12138172. DOI: 10.1074/jbc.M206959200.
Ewenstein, B.M., Avorn, J., Putnam, K.G., Bohn, R.L. :
Porcine factor VIII: pharmacoeconomics of inhibitor therapy Haemophilia 8:13-16, 2002. Pubmed reference: 11882077.
Garvey, M.B. :
Porcine factor VIII in the treatment of high-titre inhibitor patients Haemophilia 8:5-8, 2002. Pubmed reference: 11882075.
Giangrande, P.L.F., Kessler, C.M., Jenkins, C.E., Weatherill, P.J., Webb, P.D. :
Viral pharmacovigilance study of haemophiliacs receiving porcine factor VIII Haemophilia 8:798-801, 2002. Pubmed reference: 12410650.
Hay, C.R.M. :
Porcine factor VIII: current status and future developments Haemophilia 8:24-27, 2002. Pubmed reference: 11882080.
Kasper, C., Hay., Garvey., Teitel., Rivard., Aledort., Kobrinsky., Ewenstein., Bergmann, G., DiMichele., Lawday, K. :
Panel Discussion - Porcine factor VIII: current status and future developments. Haemophilia 8:28-32, 2002.
Kobrinsky, N.L., Stegman, D., Sjolander, D. :
Management of spontaneous inhibitors in children with porcine factor VIII Haemophilia 8:1-4, 2002. Pubmed reference: 11882074.
Rivard, G.E. :
Use of protein - A column and porcine factor VIII Haemophilia 8:20-23, 2002. Pubmed reference: 11882079.
Teitel, J. :
Novel developments in therapeutic applications of porcine factor VIII - Proceedings from a symposium preceding the American society of Hematology Annual Meeting ASH 2000, San Francisco - December 2000 - Introduction Haemophilia 8:V, 2002.
2001 O'Gorman, P., Dimichele, D.M., Kasper, C.K., Mannucci, P.M., Santagostini, E., Hay, C.R.M. :
Continuous infusion of porcine factor VIII in patients with haemophilia A and high-responding inhibitors: stability and clinical experience Haemophilia 7:537-543, 2001. Pubmed reference: 11851750.
2000 Gribble, J., Garvey, M.B. :
Porcine factor VIII provides clinical benefit to patients with high levels of inhibitors to human and porcine factor VIII [Review] Haemophilia 6:482-486, 2000. Pubmed reference: 11012689.
Tanaka, A.M., Tanaka, A.S., Lopes, A.P.Y., Takagi, M., Cabrera-Crespo, J., Raw, I. :
Purification of porcine plasma factor VIII using chromatographic methods Biotechnology Letters 22:257-260, 2000.
1999 Green, D., Blanc, J., Foiles, N. :
Spontaneous inhibitors of factor VIII: Kinetics of inactivation of human and porcine factor VIII Journal of Laboratory & Clinical Medicine 133:260-264, 1999.
1998 Chang, H., Mody, M., Lazarus, A.H., Ofosu, F., Garvey, M.B., Blanchette, V., Teitel, J., Freedman, J. :
Platelet activation induced by porcine factor VIII (hyate-c) American Journal of Hematology 57:200-205, 1998. Pubmed reference: 9495369.
1997 Aledort, L.M. :
Porcine factor VIII - its role in the management of congenital and acquired inhibitors - proceedings of a workshop held at the World Federation of Hemophilia Congress, Dublin, Ireland, 28 June 1996 - chairmans synthesis and closing remarks Haemophilia 3:31, 1997.
Aledort, L.M., Hay, C.R.M. :
Porcine factor VIII - its role in the management of congenital and acquired inhibitors - proceedings of a workshop held at the World Federation of Hemophilia Congress Dublin, Ireland, 28 June 1996 - foreword Haemophilia 3:1, 1997.
Aledort, L.M. :
Porcine factor VIII - its role in the management of congenital and acquired inhibitors - proceedings of a workshop held at the World Federation of Hemophilia Congress Dublin, Ireland, 28 June 1996 - chairmans introduction Haemophilia 3:2, 1997.
Anon. :
Porcine factor VIII - its role in the management of congenital and acquired inhibitors - proceedings of a workshop held at the World Federation of Hemophilia Congress Dublin, Ireland, 28 June 1996 - epilogue Haemophilia 3:32, 1997.
Hay, C.R.M., Dimichele, D., Rivard, G., Rubinger, M., Gribble, J. :
Workshop III - porcine factor VIII - continuous infusion, immune tolerance induction and prophylaxis Haemophilia 3:24-30, 1997.
Kessler, C.M., Teitel, J., Ludlam, C.A., Yoshioka, A., Negrier, C., Morfini, M. :
Workshop I - the role of porcine factor VIII - decision-making in congenital and acquired haemophilia therapy Haemophilia 3:3-11, 1997.
Travis, S.F., Burns, N., Hofmann, P. :
Porcine factor VIII (hyate-c(r)) - in vitro stability, microbiological safety and effect of heparin Haemophilia 3:254-258, 1997.
Woloschuk, D.M.M., Rubinger, M., Israels, S.J., Houston, D.S., Schwetz, N., Johnston, J.B. :
In-vitro stability of porcine factor viii (hyate-c(r)) Haemophilia 3:21-23, 1997.
1996 Healey, J.F., Lubin, I.M., Lollar, P. :
The cDNA and derived amino acid sequence of porcine factor VIII Blood 88:4209-4214, 1996. Pubmed reference: 8943856.
Littlewood, J.D., Bevan, S.A., Kemballcook, G., Barrowcliffe, T.W. :
In vivo studies of activated porcine factor viii Thrombosis & Haemostasis 76:743-748, 1996.
1982 Dodds, W.J. :
An effective mass-screening program for animal models of the inherited bleeding disorders. Prog Clin Biol Res 94:117-32, 1982. Pubmed reference: 6981819.
1972 Cornell, C.N., Rahn, R.A., Cooper, R.G., Muhrer, M.E. :
Platelet factor 3 availability in bleeder swine Comparative Biochemistry and Physiology 42A:817-822, 1972.

Edit History

  • Created by Frank Nicholas on 24 Dec 2005
  • Changed by Frank Nicholas on 06 Dec 2012
  • Changed by Imke Tammen2 on 25 Jun 2021