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Afibrinogenemia, Variant 1

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Test Overview:

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.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

FGA

Variant Detected:

chr15:52601736 (canFam4): A/-

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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]

Associated Breed(s):

Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,

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