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Haemophilia B, also called Factor IX Deficiency or Christmas Disease, is a blood disorder that impairs clotting, which can lead to uncontrolled bleeding.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | X |
| Mutation | c.-73delC |
| Mode of Inheritance | X-Linked Recessive |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | Factor IX |
Informations générales
Haemophilia B, also called Factor IX Deficiency or Christmas Disease, is a blood disorder that impairs clotting, which can lead to uncontrolled bleeding. It is caused by an X-linked recessive mutation to the gene F9. There are many known variants of Haemophilia B, each specific to a particular dog breed. The variant analysed in this test occurs in the Hovawart.
Caractéristiques cliniques
Affected dogs are prone to uncontrolled bleeding after injury or surgery, and may develop spontaneous bleeding. Blood analysis will confirm a lack of Factor IX activity.
Additional Information
Références
Pubmed ID: 30846504
Year published: 2019
Omia ID: 438
Omia variant ID: 1039