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Asymptomatic Macrothrombocytopenia

General

Disease Name
Asymptomatic Macrothrombocytopenia
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.
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