Loading...

home
Order Tests for Dogs
DNA Tests
Congenital Macrothrombocytopenia

Description

Genetic basis - Caused by mutations in the TUBB1 gene, which encodes beta-1 tubulin, a protein critical for platelet formation. Two main mutations identified: TUBB1 c.745G>A (p.D249N) in Cavalier King Charles Spaniels. TUBB1 c.5G>A (p.R2H) in Cairn Terriers. Dogs need two copies of the mutated gene (autosomal recessive inheritance) to develop the condition. Some mutations may have mixed modes (autosomal dominant with incomplete penetrance).

Affected Breeds - Common in Cavalier King Charles Spaniels, Cairn Terriers, Norfolk Terriers, Shih Tzus. Also found in American Staffordshire Terriers, Chesapeake Bay Retrievers, German Shepherds, Golden Retrievers, Labradors, Pugs, West Highland White Terriers, Yorkshire Terriers, and others.

Clinical Signs and Diagnosis - Persistently low platelet count with large platelets on blood smears. No increased bleeding tendency or coagulation problems. Often discovered incidentally during routine blood work. Diagnosis relies on genetic testing and blood smear evaluation. Important to distinguish from acquired thrombocytopenia to avoid inappropriate treatment.

Management - No treatment is required for congenital macrothrombocytopenia. Recognition prevents unnecessary antibiotics, steroids, or other treatments used for immune-mediated or infectious thrombocytopenia.

Recommended Breeding

Diseases

Congenital Macrothrombocytopenia

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Haemolymphatic - Associated with the blood and lymph

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

Tubulin beta 1 class VI (TUBB1) on Chromosome 24

Variant Detected:

TUBB1 c.745G>A (p.D249N) in Cavalier King Charles Spaniels. TUBB1 c.5G>A (p.R2H) in Cairn Terriers.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

OMIA Reference:

Click to View Full OMIA Reference