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Hereditary Elliptocytosis

Hereditary Elliptocytosis is a disease where the red blood cells are abnormally oval shape, rather than the characteristic biconcave or dumbbell shape that is normally seen.

Key Signs

Abnormal oval shaped red blood cells, Possible hemolytic anemia

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Dominant

For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.

Likelihood of the Condition

Low-moderate likelihood

At risk dogs may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a dog with Hereditary Elliptocytosis

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Hereditary Elliptocytosis

Only one genetic mutation associated with elliptocytosis has been previously described. In a case study on one dog, a Labrador and Chow Chow mixed breed, the patient presented with persistent elliptocytosis, decreased mechanical deformability of erythrocytes and decreased erythrocyte membrane stability. Molecularly, elliptocytosis was found to be due to a defect in the erythrocyte membrane protein beta-spectrin. The studied dog was found to carry one copy of a mutation in the beta-spectrin encoding gene. Further information on the mutation is needed to examine whether dogs with two copies of the mutation have a more severe hemolytic, elliptocytic anemia.

It is advised that dogs with this condition have regular veterinary check-ups for monitoring purposes and supportive treatment as needed.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal dominant meaning that one copy of the mutation is needed for disease signs to occur. Use of dogs with one or two copies of the disease mutation for breeding is not recommended, as there is a risk that the resulting litter will contain affected puppies. For example if a dog with one copy of the Hereditary Elliptocytosis mutation is bred with a clear dog with no copies of the Hereditary Elliptocytosis mutation, about half of the puppies will have one copy and half will have no copies of the Hereditary Elliptocytosis mutation. Please note: It is possible that disease signs similar to the ones caused by the Hereditary Elliptocytosis mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene SPTB
Variant C>T
Chromosome 8
Coordinate 39,170,437

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Di Terlizzi, R., Gallagher, P. G., Mohandas, N., Steiner, L. A., Dolce, K. S., Guo, X., … Stockham, S. L. (2009). Canine elliptocytosis due to a mutant β-spectrin. Veterinary Clinical Pathology, 38(1), 52–58. View the article