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Elliptocytosis B-spectrin (Labrador Retriever/Poodle Type) Overview

Elliptocytosis B-spectrin (Labrador Retriever/Poodle Type)
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Category: Haemolymphatic - Associated with the blood and lymph

Gene: Spectrin beta erythrocytic (SPTB) Chromosome 8

Variant Detected: Base Substitution c.6384C>T Thr2110Met

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Dominant

Test Overview: Canine elliptocytosis is a rare inherited blood disorder. Normal red blood cells are round in shape but red blood cells in affected dogs appear oval-shaped and can have serrated edges. An affected dog may present with mild Anemia and may be smaller than its littermates. Severe health complications have not been reported in affected dogs

Research Citation(s): Di Terlizzi R, et al. Canine elliptocytosis due to a mutant beta-spectrin. (2009) Vet Clin Pathol, 38(1); 52-58.

Associated Breed(s): Labradoodle ,  Labrador Retriever,  Standard Poodle,  Mixed Breed,  Australian Labradoodle ,  Australian Cobberdog,  Groodle,