Prekallikrein Deficiency
Affected Genes: KLKB1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr16:44988132: A>T
Breed: Shih Tzu
General Information: Prekallikrein Deficiency (PKD) in dogs is a genetic disorder characterized by a deficiency in a key protein involved in the blood clotting process, leading to prolonged clotting times. While many dogs with this condition do not exhibit obvious signs of excessive bleeding under normal circumstances, they may experience significant bleeding challenges during surgeries, injuries, or when affected by other clotting deficiencies. Symptoms could include easy bruising, frequent nosebleeds, or extended bleeding from minor cuts. The disorder often remains undetected until a medical procedure reveals abnormal bleeding, which can be critical without prior knowledge of the condition. Veterinarians may need to prepare for potential complications by arranging for blood transfusions when operating on known cases of PKD.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Prekallikrein Deficiency (PKD) identifies mutations in the KLKB1 gene, crucial for proper blood clotting function. This disorder is autosomal recessive, meaning a dog needs to inherit two copies of the mutated gene, one from each parent, to exhibit symptoms of the deficiency. Carriers, with only one copy of the mutation, do not show any symptoms but can pass the defective gene to their offspring. When two carriers are bred, there is a 25% chance that any given puppy will be affected, and a 50% chance it will be a carrier. Testing is essential to identify carriers and manage breeding decisions effectively, aiming to reduce or eliminate this mutation from the gene pool. Breeding affected or carrier dogs is not recommended, as it increases the risk of perpetuating the condition in the population. Dogs not carrying the mutation have no increased risk of producing affected offspring.
References:
Okawa T, Yanase T, Shimokawa Miyama T, Hiraoka H, Baba K, Tani K, Okuda M, Mizuno T. Prekallikrein deficiency in a dog. J Vet Med Sci. 2011 73(1):107-111.