OMIA 000437-9796 : Haemophilia A in Equus caballus

In other species: domestic cat , dog , pig , sheep , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 306700

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

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.

Molecular basis: In the first genetic investigation of haemophilia A in horses, Norton et al. (2016) identified an abnormal factor VIII transcript, suggestive of a causal mutation in intron 1.

References


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.
2016 Norton, E.M., Wooldridge, A.A., Stewart, A.J., Cusimano, L., Schwartz, D.D., Johnson, C.M., Boudreaux, M.K., Christopherson, P.W. :
Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A. Vet Clin Pathol 45:96-102, 2016. Pubmed reference: 26765501. DOI: 10.1111/vcp.12315.
1991 Littlewood, J.D., Bevan, S.A., Corke, M.J. :
Haemophilia-A (Classic Haemophilia, Factor-VIII Deficiency) in a Thoroughbred Colt Foal Equine Veterinary Journal 23:70-72, 1991. Pubmed reference: 2015811.
1988 Henninger, R.W. :
Hemophilia A in two related quarter horse colts. J Am Vet Med Assoc 193:91-4, 1988. Pubmed reference: 3138224.
1983 Mills, J.N., Bolton, J.R. :
Haemophilia A in a 3-year-old thoroughbred horse. Aust Vet J 60:63-4, 1983. Pubmed reference: 6838443.
1972 Archer, R.K., Allen, B.V. :
True haemophilia in horses. Vet Rec 91:655-6, 1972. Pubmed reference: 4654307.
1964 Sanger, V.L., Mairs, R.E., Trapp, A.L. :
Hemophilia in a foal. J Am Vet Med Assoc 144:259-64, 1964. Pubmed reference: 14114821.
1962 Nossel, H.L., Archer, R.K., Macfarlane, R.G. :
Equine haemophilia: report of a case and its response to multiple infusions of heterospecific AHG. Br J Haematol 8:335-42, 1962. Pubmed reference: 13939026.

Edit History


  • Created by Frank Nicholas on 16 Jul 2005
  • Changed by Frank Nicholas on 29 Aug 2013
  • Changed by Frank Nicholas on 19 Jan 2016