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Elliptocytosis

Elliptocytosis in dogs is a genetic condition that causes red blood cells to be elongated and oval-shaped instead of their typical round shape.

Affected Genes: SPTB

Inheritance: Autosomal Dominant

Variant(canFam6):
chr8:38862929: G>A

Breed: Australian Labradoodle*
Chow Chow
Labradoodle*
Labrador Retriever
UK Breed Council Labrador Retriever

General Information: Elliptocytosis is a rare inherited blood disorder in dogs characterized by the presence of elongated, oval, or elliptical red blood cells instead of the normal round, biconcave shape. Affected dogs may also display red blood cells with serrated edges. While most dogs with elliptocytosis appear healthy and do not suffer from severe health issues, they may occasionally present with mild anemia and could be smaller than their littermates. Despite the abnormal shape of their red blood cells, these dogs typically do not experience significant health complications. The altered cell shape is generally benign, but it is important to monitor affected dogs for any signs of anemia or other potential issues to ensure their overall well-being.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SPTB gene is essential for identifying carriers of the mutation responsible for elliptocytosis in dogs. This condition is inherited in an autosomal dominant manner, meaning a dog only needs one copy of the mutated gene to exhibit the disease. Therefore, each puppy born to a parent with the mutation has a 50% chance of inheriting the disease. If both parents carry the mutation, the likelihood of affected offspring increases to 75-100%. Reliable genetic testing is crucial for responsible breeding practices to avoid producing puppies with this condition. By identifying carriers and avoiding breeding them with each other, breeders can help eliminate this mutation from dog populations, ensuring healthier and more resilient future generations. Non-carrier dogs do not have an increased risk of producing pups with elliptocytosis, making genetic screening an important tool for maintaining the health and genetic integrity of breeding lines.

References:
Di Terlizzi R, Gallagher PG, Mohandas N, Steiner LA, Dolce KS, Guo X, Wilkerson MJ, Stockham SL. Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol. 2009 38(1):52-58.