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

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 306700 (trait) , 300841 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0010602: hemophilia A

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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).