Afibrinogenemia (Dachshund Type)

Affected Genes: FGA
Inheritance: Autosomal Recessive
Mutation: chr15:52601736 (canFam4): A/-
Breed(s): Dachshund, Miniature Longhaired Dachshund, Miniature Smooth Dachshund, Miniature Wirehaired Dachshund, Standard Longhaired Dachshund, Standard Smooth Dachshund, Standard Wirehaired Dachshund

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Common Symptoms

Afibrinogenemia is an inherited bleeding disorder affecting dogs. Fibrinogen is an essential protein needed for normal blood clotting. Affected dogs generally exhibit severe signs of bleeding which may be evident during the neonatal period as umbilical cord bleeding. Affected dogs exhibit frequent nosebleeds and bleeding from the gums. They bruise easily and often get blood filled masses (hematomas) under their skin and within muscles with mild trauma. They can also have internal bleeding and bloody or dark tarry feces. Dogs may show signs of lameness or stiffness if bleeding in the joints is present. There is significant risk for prolonged bleeding after surgery or trauma, and in some cases, the bleeding may be severe enough to cause death. Even with intensive medical support, many dogs do not survive longer than a year with this condition.

Testing Tips

Genetic testing of the FGA gene will reliably determine whether a dog is a genetic Carrier of Afibrinogenemia (Dachshund type). This disease is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier of the FGA gene mutation. Reliable genetic testing is important for determining breeding practices. Genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Franchini M, Marano G, Pupella S, Vaglio S, Masiello F, Veropalumbo E, Piccinini V, Pati I, Catalano L, Liumbruno GM. Rare congenital bleeding disorders. Ann Transl Med. 2018 Sep;6(17):331. [PubMed: 30306070]
  • Mischke R, Metzger J, Distl O. An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. Genes (Basel). 2021 Jul 13;12(7):1065. [PubMed: 34356081]