Congenital Macrothrombocytopenia

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.

On routine blood work (CBC), your vet may note a low platelet number confirming the diagnosis.

No treatment is required for this condition.

Talk to your vet about your dog’s congenital macrothrombocytopenia result, as it may influence how they interpret bloodwork or platelet counts.

Many dogs with this result never show symptoms or develop health problems related to this variant.

Congenital Macrothrombocytopenia was first described in the Cairn and Norfolk Terrier.

Penetrance: 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

TUBB1 Exon 1 SNP 5

Inheritance type

recessive

Clinical category

Hematologic

Citations

1. Gelain et al 2014

• Cairn Terrier
• Norfolk Terrier