Thrombopathia (American Eskimo Dog Type)

General Information: Thrombopathia (TBP) in American Eskimo dogs manifests as an inability of platelets to adhere properly, which is crucial for normal blood clotting. Dogs with this condition can exhibit a range of bleeding issues, from mild to severe. Common symptoms include recurrent nosebleeds, excessive gum bleeding particularly during dental changes or when chewing hard objects, and the formation of hematomas under the skin or within muscles from slight injuries. More severe manifestations might include internal bleeding, evident through bloody or dark tarry feces, and signs of discomfort like lameness or stiffness due to joint bleeds. These symptoms often don't become apparent until the dog undergoes surgery or experiences trauma, making preemptive diagnosis vital. Despite these risks, affected dogs can lead normal lives with careful management but are at higher risk of life-threatening complications following injuries or surgeries.

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 of the RASGRP1 gene in American Eskimo dogs is essential for identifying carriers of Thrombopathia (TBP) (American Eskimo Dog Type), which is passed on through an autosomal recessive pattern. This means that to express the disease, a dog must inherit two copies of the defective gene, one from each parent. Carriers, possessing only one copy of the gene, typically show no symptoms but can produce affected offspring if bred with another carrier. In such breedings, each puppy has a 25% chance of being affected by the disorder and a 50% chance of being a carrier. To mitigate the spread of this disorder and maintain the breed's health, breeding of known carriers should be avoided. Genetic testing is thus a critical tool for breeders, enabling informed breeding decisions to reduce the prevalence of this bleeding disorder and ensure the well-being of future generations.