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Asymptomatic Macrothrombocytopenia
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Asymptomatic Macrothrombocytopenia
OMIA
1001
Gene Name
TUBB1
Mutation
c.5G>A
Mutation 2
c.745G>A
Test Type
Genetic Disease/Disorder
Details
This disorder occurs in many different forms, many of which are not inherited. Characterised by low platelet count, and problems with platelet production as well as premature destruction.
Details 2
This disorder occurs in many different forms, many of which are not inherited. Characterised by low platelet count, and problems with platelet production as well as premature destruction. Rapid platelet consumption is often observed in acute haemorrhage, disseminated intravascular coagulation, or inflammation.
Published
Davis, B., Toivio-Kinnucan, M., Schuller, S., Boudreaux, MK. : Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-5, 2008. Pubmed reference: 18466252. DOI: 10.1111/j.1939-1676.2008.0085.x.
Published 2
Gelain,Bertazzolo, Tutino, Pogliani, Cian, Boudreaux: A novel point mutation in the ?1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers Veterinary Clinical Pathology 07/2014
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Cairn Terrier, Cavalier King Charles Spaniel, Norfolk terrier
