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Thrombopathia (Basset Hound Type)
Test Overview:
Affected dogs have abnormal platelet function. Platelets are blood cells that are responsible for the normal clotting of blood. This 'abnormality' in platelets makes them unable to stick properly to one another and therefore cannot clot normally. The risk for excessive and spontaneous bleeding can range from mild to severe. The most common symptoms in affected dogs are recurrent nose bleeds and excessive bleeding of the gums when a dog sheds its teeth or chews on hard objects. Affected dogs can also show signs of bruising easily resulting blood filled masses (hematomas) under their skin especially at the tips of the ears.
Category:
Haemolymphatic - Associated with the blood and lymph
Gene:
RASGRP1
Variant Detected:
c.del512-514TCT p.171Fdel
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
2008 Boudreaux, MK. : Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051. DOI: 10.2460/javma.233.8.1251. 2007 Boudreaux, MK., Catalfamo, JL., Klok, M. : Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92, 2007. Pubmed reference: 17656327. DOI: 10.1016/j.trsl.2007.03.006. 1995 Callan, M.B., Bennett, J.S., Phillips, D.K., Haskins, M.E., Hayden, J.E., Anderson, J.G., Giger, U. : Inherited platelet delta-storage pool disease in dogs causing severe bleeding - an animal model for a specific adp deficiency Thrombosis & Haemostasis 74:949-953, 1995. 1994 Boudreaux, M.K., Crager, C., Dillon, A.R., Stanz, K., Toiviokinnucan, M. : Identification of an Intrinsic Platelet Function Defect in Spitz Dogs Journal of Veterinary Internal Medicine 8:93-98, 1994. Pubmed reference: 8046682. 1993 Brooks, M., Catalfamo, J. : Buccal Mucosa Bleeding Time Is Prolonged in Canine Models of Primary Hemostatic Disorders Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434. 1989 Patterson, W.R., Estry, D.W., Schwartz, K.A., Borchert, R.D., Bell, T.G. : Absent Platelet Aggregation with Normal Fibrinogen Binding in Basset Hound Hereditary Thrombopathy Thrombosis and Haemostasis 62:1011-1015, 1989. Pubmed reference: 2512673. 1988 Catalfamo, JL., Dodds, WJ. : Hereditary canine thrombopathia. Vet Clin North Am Small Anim Pract 18:273-4, 1988. Pubmed reference: 3258696. 1986 Catalfamo, JL., Raymond, SL., White, JG., Dodds, WJ. : Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood 67:1568-77, 1986. Pubmed reference: 3011147. 1985 Patterson, W.R., Padgett, G.A., Bell, T.G. : Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res 37:61-71, 1985. Pubmed reference: 3983903. 1979 Johnstone, IB., Lotz, F. : An inherited platelet function defect in Basset hounds. Can Vet J 20:211-5, 1979. Pubmed reference: 509382
Associated Breed(s):
Basset Hound,
