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Factor XI, and Factor XII variation 1 and 2

 

 

Factor XI

Factor XI deficiency in cats, particularly affecting Maine Coon cats, is a genetic bleeding disorder characterized by reduced levels and activity of factor XI, a protein crucial for blood clotting.This deficiency can lead to mild to moderate bleeding, especially after trauma or surgery. 
 
The condition is inherited autosomal recessive manner, meaning a cat needs two copies of the mutated gene (one from each parent) to exhibit symptoms.
Here's a more detailed breakdown:
What is Factor XI Deficiency?
  • Factor XI is a protein involved in the blood clotting process.
  • Deficiency means the body has reduced levels or activity of this protein, making it harder for blood to clot properly.
  • In cats, this often manifests as mild to moderate bleeding, with symptoms like:
    • Nosebleeds
    • Gum bleeding
    • Easy bruising
    • Prolonged bleeding after surgery or injury
    • Unusual bruising or bleeding under the skin
       
  • Some cats may be asymptomatic, meaning they don't show any noticeable signs of the condition. 
  • The severity of symptoms can vary between individuals.
     
Maine Coon Connection:
  • Factor XI deficiency has been identified as a breed-specific issue in Maine Coon cats.
  • A specific genetic mutation, called FXI-V516M, has been identified as the cause of this deficiency in Maine Coons.
  • This mutation is not found in other cat breeds.
     
Inheritance:
  • The condition is inherited in an autosomal recessive manner.
  • This means both parents must carry the mutated gene for their offspring to be affected.
  • Cats with only one copy of the mutated gene are carriers and can pass it on to their kittens, but they themselves will not show symptoms.
Diagnosis:
  • A genetic test is available to detect the specific mutation in the F11 gene responsible for Factor XI deficiency in Maine Coon cats.
  • The test can identify cats that are affected, carriers, or clear of the mutation.
  • This test is crucial for responsible breeding practices to minimize the spread of the genetic defect.
Management:
  • While there's no cure, understanding a cat's Factor XI status allows for appropriate management, especially before surgery or other procedures that might cause bleeding.
  • Veterinarians can take precautions to minimize bleeding risks during procedures and manage any bleeding episodes that may occur.

 

Factor XII

Factor XII deficiency in cats is a hereditary condition caused by mutations in the F12 gene, with two common variants identified. These variations, designated as Variant 1 (a deletion) and Variant 2 (a substitution), are found in domestic cats and can lead to prolonged clotting times, particularly in the activated partial thromboplastin time (aPTT) test, but surprisingly,  without increased risk of bleeding.  Factor XII variations 1 and 2 are common in Domestic cats.
Variant 1: A deletion in exon 11 of the F12 gene (c.1321delC, p.(L441CfsX119)).
Variant 2: A substitution in exon 13 (c.1631G>C, p.(G544A)).
  • Autosomal Recessive Inheritance: Both variants are inherited in an autosomal recessive manner.
     
  • Carriers: Cats with one copy of the mutation (heterozygous) are carriers and do not show symptoms, but can pass the mutation on to their offspring.
     
  • Homozygous Affected: Cats with two copies of the mutation (homozygous) have reduced or absent Factor XII activity and prolonged clotting times, but generally do not experience abnormal bleeding. 
  • No Increased Bleeding Risk: Despite prolonged clotting times, cats with FXII deficiency do not typically show increased bleeding tendencies. 
  • Clinical Significance: Factor XII deficiency is often discovered incidentally during preoperative blood tests or routine screening.
 
Breeding recommendations:
This condition is autosomal recessive, asymptomatic, meaning that cats with two copies of the variant will show the variant-associated condition but will not suffer disease due to this genetic cause. Current understanding is that a cat with one or two copies of the Factor XII Deficiency variant can be safely bred with a cat with zero, one, or two copies of the variant. 
 

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