OMIA:000437-9796 : Haemophilia A in Equus caballus |
In other species: domestic cat , dog , pig , sheep , taurine cattle , crab-eating macaque
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
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 molecular 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.
Breeds: American Trotter (Horse) (VBO_0000899), Arab (Horse) (VBO_0000905), Quarter Horse (Horse) (VBO_0001057), Tennessee Walking Horse (Horse) (VBO_0001081), Thoroughbred (Horse) (VBO_0001083).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000437-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2021 | Dahlgren, A.R., Tablin, F., Finno, C.J. : |
| Genetics of equine bleeding disorders. Equine Vet J 53:30-37, 2021. Pubmed reference: 32463964 . DOI: 10.1111/evj.13290. | |
| 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 . | |
| 1982 | Feldman, B.F., Giacopuzzi, R.L. : |
| Hemophilia A (factor Vlll deficiency) in a colt Equine Practice 4:24-30, 1982. | |
| 1972 | Archer, R.K., Allen, B.V. : |
| True haemophilia in horses. Vet Rec 91:655-6, 1972. Pubmed reference: 4654307 . | |
| 1967 | Hutchins, D.R., Lepherd, E.E., Crook, I.G. : |
| A case of equine haemophilia Australian Veterinary Journal 43:83-87, 1967. | |
| 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 . | |
| 1961 | Archer, R.K. : |
| True haemophilia (haemophilia A) in a Thoroughbred foal Veterinary Record 73:338-340, 1961. |
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
- Changed by Frank Nicholas on 02 Jun 2020