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.

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  • 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


    • 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:


  • Breeds affected

    This health condition affects the following breeds

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