In other species: crab-eating macaque , dog , domestic horse , 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

Single-gene trait/disorder: yes

Mode of inheritance: X-linked

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

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: Beetz et al. (2024) reported a suspected splice variant in intron 19 of the F8 gene (c.6073+2 T>C, omia.variant:1767) as likely causal variant in a 3-month-old domestic shorthair tomcat with haemophilia A.

Clinical features: Beetz et al. (2024) reported a 3-month-old domestic shorthair tomcat with alternating lameness, fever and inappetence: "Coagulation tests revealed an isolated prolonged activated partial thromboplastin time (aPTT). Activity of factor VIII was 5% (reference range: 70–125%), of factor IX 55% (80–130%), and of factor XII 73% (50–140%)."

Breed: European Shorthair (Cat) (VBO_0100094).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: