Haemophilia B 2 – Cat
Kodas: K657
Short description
Haemophilia B in cats (also known as 'Christmas Disease') is a group of rare hereditary bleeding disorders in which blood doesn’t clot appropriately in case of an injury.
General information
Haemophilia B in cats (also known as ‘Christmas Disease’) is a group of rare hereditary bleeding disorders in which blood doesn’t clot appropriately in case of an injury. Haemophilia B is a severe condition that can be inborn or acquired. Haemophilia B is an X chromosome-linked recessive deficiency of coagulation factor IX.
Haemophilia B is related to 2 single nucleotide mutations. Either a (CGA to TGA) or a TGT to TAT mutation.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | F9 |
| Chromosome | X |
| Mutation | c.1150C>T |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | Factor IX |
Clinical features
Cats with Haemophilia often show weakness, fever and lack of appetite. Furthermore lameness and swelling of the joints may occur due to spontaneous bleeding into the joints. Internal bleeding in organs or body cavities can contribute to bloody or dark stool and vomit, rectal or vaginal bleeding, nose bleeding and swellings under the skin.
Additional information
This test is based on the CGA to TGA mutation.
Hemophilia B is clinically indistinguishable from hemophilia A (factor VIII-coagulant deficiency) and is definitively diagnosed by documentation of subnormal factor IX enzyme activity.
References
Pubmed ID: 15822564
Year published: 2005
Omia ID: 438
Omia variant ID:
Turnaround information
- 10 working days