OMIA 000437-9541 : Haemophilia A in Macaca fascicularis

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

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

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.

Reference


2022 Elkouby, L., Armour, S.M., Toso, R., DiPietro, M., Davidson, R.J., Nguyen, G.N., Willet, M., Kutza, S., Silverberg, J., Frick, J., Crosariol, M., Wang, Y., Wang, C., High, K.A., Sabatino, D.E., Anguela, X.M. :
Preclinical assessment of an optimized AAV-FVIII vector in mice and non-human primates for the treatment of hemophilia A. Mol Ther Methods Clin Dev 24:20-29, 2022. Pubmed reference: 34977269. DOI: 10.1016/j.omtm.2021.11.005.

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  • Created by Imke Tammen2 on 21 Jan 2022