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Factor XII deficiency, also known as Hageman deficiency, is the most common congenital coagulopathy in domestic cats.
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Only available in bundles
Spesifikasjoner
| Breeds | Amerikansk korthår, Balineser, Highlander, Himalayan, Manx, Napoleon, Siameser, Tennessee Rex, Bengal, Maine Coon, Munchkin, Ragdoll, Savannah |
|---|---|
| Gene | |
| Chromosome | A1 |
| Mutation | c.1321delC |
| Mode of Inheritance | Automatisk resessiv |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
Generell informasjon
Factor XII deficiency, also known as Hageman deficiency, is the most common congenital coagulopathy in domestic cats. Blood coagulation (also known as blood clotting) is regulated by a complex cascade of plasma proteins. This is an essential process that stops bleeding at the site of injury.
One of these key proteins is coagulation factor XII (also referred to as FXII, F12, or factor 12). Mutations in the F12 gene disrupt the normal function of FXII, leading to prolonged clotting times (both activated partial thromboplastin time (aPTT) and activated clotting time (ACT) are prolonged).
This test detects variant 533 that is associated with a severe decrease in FXII activity causing difficulties in blood coagulation. It is found in several breeds, though is less widespread as the variant 147.
Kliniske egenskaper
Denne varianten fører til FXII-mangel, noe som resulterer i fravær av utløsbar faktor XII i kattens blodplasma. Katter som er homozygote for denne mutasjonen har en alvorlig mangel og vil sannsynligvis ha økt tendens til blødning etter operasjon eller (mindre) traumer. Katter som er heterozygote har en moderat reduksjon i FXII-aktivitet.
Tilleggsinformasjon
In literature an autosomal recessive inheritance pattern is suggested, but also describes mild clinical features in cats heterozygous for this variant.
If both variant 147 and 533 are present in heterozygous state, the animal will not produce any functional FXII protein. The cat will be considered as homozygous affected (compound heterozygosity).
Referanser
Pubmed ID: 24793828
Year published: 2015
Omia ID: 364
Omia variant ID: 533