Elliptocytosis / hereditary elliptocytosis (SPTB-related) - Dog

What does this test analyse?

This genetic test analyses the SPTB variant c.6119C>T for elliptocytosis, hereditary elliptocytosis and SPTB-related abnormal red blood cell shape in dogs.

What does elliptocytosis mean?

In elliptocytosis, red blood cells more often have an oval or elliptical shape instead of the normal round biconcave shape. SPTB encodes beta-spectrin, an important component of the red blood cell skeleton. A change in this protein can influence red cell shape and mechanical stability.

The condition is often described as mild and may be detected incidentally during blood testing or examination of a blood smear. The information is still useful, because abnormally shaped red cells can be more sensitive to mechanical stress and because the result helps identify a hereditary explanation for elliptocytes.

Practical value of this test

• The test helps breeders and owners determine whether the dog carries the tested SPTB variant.
• The result supports breeding planning and selection when elliptocytosis or abnormal red blood cells occur in a line.
• In a dog with elliptocytes on a blood smear, the test can provide genetic clarity for this specific variant.
• The result helps target testing of relatives and manage hereditary spread of the variant more effectively.

Inheritance and result

The exact inheritance pattern for this SPTB variant is not fully defined. The test therefore reports variant status: C/C, C/T or T/T. A dog carrying the T variant can pass it on; interpretation should be combined with blood findings, family information and breeding goals.