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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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Specifications
| Gene | |
|---|---|
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
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 147 that is associated with a moderate to severe decrease in FXII activity causing difficulties in blood coagulation. It is found widespread across many breeds. Indicating that it is more prevalent than variant 533.
Clinical features
Variant 147 leads to FXII deficiency, resulting in the absence of detactable factor XII in the cat's blood plasma. Cats homozygous for this mutation have a severe deficiency and will likely have an increased tendency to bleeding after surgery or (minor) trauma. Cats that are heterozygous have a moderate reduction in FXII activity.
Additional information
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).
References
Pubmed ID: 28392508
Omia ID: 364