DonateFactor VIII Deficiency
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Factor VIII Deficiency
Mutation
c.1412C>G
Mutation 2
c.1643G>A
Mutation 3
p.Cys548Tyr
Details
Factor XIII deficiency causes an 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.
Details 2
Factor XIII deficiency causes an 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.
Published
Hough, C., Kamisue, S., Cameron, C., Notley, C., Tinlin, S., Giles, A., Lillicrap, D. : Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: Similarities with the intron 22 inversion mutation in human hemophilia Thrombosis & Haemostasis 87:659-665, 2002. Pubmed reference: 12008949.
Breed Specific Info
Researched Breeds
Boxer
