Genetic basis of Elliptocytosis B-spectrin type - in Labrador Retriever and Poodle it is a rare inherited blood disorder caused by a mutation in the beta-spectrin gene (SPTB), which encodes a key erythrocyte membrane protein responsible for maintaining red blood cell shape and flexibility. This condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disease. DNA testing can identify affected dogs carrying the mutation.
Pathophysiology - The mutation in beta-spectrin impairs the normal structure and stability of red blood cell membranes. This leads to abnormal red blood cells that are elliptical (oval) in shape rather than the normal round shape, often with serrated edges. The defective membrane protein reduces the cells' mechanical deformability and stability but does not usually cause severe destruction. As a result, affected dogs may show mild anemia due to some decreased red cell lifespan.
Complications - Clinically, affected dogs typically exhibit mild anemia and may be smaller than their littermates, but severe health problems or life-threatening complications are not reported. The condition is usually stable and not progressive, with no major impact on life quality or expectancy. Regular veterinary monitoring is advised.
Why This Matters to Breeders and Vets - Breeders should be aware that this is a dominantly inherited disorder; breeding an affected dog has a 50% chance of passing the mutation to offspring. Use of affected dogs for breeding is generally not recommended to avoid producing affected puppies. Veterinarians should recognize the characteristic elliptical red blood cells on blood smears and consider genetic testing to confirm diagnosis. While usually mild, anemia should be monitored, and owners advised accordingly. Understanding this condition helps avoid misdiagnosis with other hemolytic anemias and supports informed breeding decisions to reduce disease spread.
Summary - Elliptocytosis B-spectrin (Labrador Retriever/Poodle type) is a rare autosomal dominant inherited disorder caused by a mutation in the beta-spectrin gene that results in oval-shaped red blood cells. Affected dogs often have mild anemia and may be smaller than their peers but generally do not suffer severe health consequences. Genetic testing allows identification of affected dogs, supporting responsible breeding to prevent propagation of this condition. Regular veterinary care ensures monitoring and management of anemia if present.