Congenital Macrothrombocytopenia
This is a benign disorder of platelet production that leads to abnormally large, sparse platelets.
-
Signs and symptoms
As this condition does not cause any clinical disease, you will not notice any signs of it at home.
Dogs are born with this disorder, but it is often not recognized unless your veterinarian performs certain blood tests. -
Diagnosis
On routine blood work (CBC), your vet may note a low platelet number confirming the diagnosis.
-
Treatment
No treatment is required for this condition.
-
What to do if your dog is at risk
Actions
- Genetic testing can save your dog from undergoing a battery of tests to rule out other causes of macrothrombocytopenia: infectious, inflammatory, autoimmune, or toxic.
-
Genetic Information
Congenital Macrothrombocytopenia was first described in the Cairn and Norfolk Terrier.
The original study reports dogs with only one copy of the variant do not have abnormally large platelets. Dogs with two copies of the variant have macrothrombocytopenia but do not show clinical signs. .
Gene names:
TUBB1 Exon 1 SNP 5 ‐ chr
Inheritance type:
recessive
Citations:
-
Breeds affected
This health condition affects the following breeds
Learn about your dog’s unique genetic health
Dog owners
Breed identification, health and trait insights, personalized care recommendations, and the world’s first canine relative finder—all in one leading dog DNA test.
Learn about the report for dog ownersShop the test
Breeding programs
Embark’s test for breeding programs is one comprehensive DNA test designed with your needs in mind.
Learn about the report for breedersShop the test
