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Congenital Macrothrombocytopenia Overview

Congenital Macrothrombocytopenia
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Category: Haemolymphatic - Associated with the blood and lymph

Gene: Tubulin beta 1 class VI (TUBB1) on Chromosome 24

Variant Detected: Base Substitution c.745G>A p.Asp249Asn

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Canine Macrothrombocytopenia is a condition characterized by oversized platelets and a low platelet count. The name is derived from words macro (large) and thrombocyte (platelets). Canine Macrothrombocytopenia is characterized by abnormalities in size and count of platelets. Platelets in affected dogs function normally, and affected dogs do not show any health problems or prolonged bleeding time. Having said all that, Dr. Penny Watson of the University of Cambridge, who has been studying pancreatitis in cavaliers for many years, opened at a presentation in November 2014 the hypothesis that there may be a relationship between the serotonin carried by blood platelets through the vascular system to various organs, particularly the pancreas, the kidneys, the liver, the central nervous system, and the mitral valves of the heart, all causing scarring of and other damage to the tissues of these organs. It may prove useful in understanding heart-related changes in macrothrombocytopenic CKCS with concurrent mitral valve regurgitation.

Research Citation(s): Davis B, et al. Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. (2008) J Vet Intern Med 22(3); 540-545.

Associated Breed(s): Cavalier King Charles Spaniel,  Cavador,  Cavoodle,  Mixed Breed,  Chihuahua,  Australian Labradoodle ,  Australian Cobberdog,  Labradoodle ,  Labradoodle Retrodoodle ,  Labrador Retriever,  Jack Russell Terrier,  Standard Poodle,  Parson Russell Terrier,