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Prekallikrein Deficiency (Shih Tzu Type)

Prekallikrein Deficiency (Shih Tzu Type)

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Test Overview:

Prekallikrein Deficiency is a rare inherited blood disorder affecting dogs. Prekallikrein is a protein that is part of the blood clotting process, and when deficient, increases the time for blood to clot. Dogs with this disorder can have severe bleeding if they have concurrent deficiencies in other proteins required for normal blood clotting. Dogs with a bleeding disorder may bruise easily, have frequent nosebleeds and exhibit prolonged bleeding after surgery or trauma. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have Prekallikrein Deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Kallikrein B1 (KLKB1) on Chromosome 16

Variant Detected:

Base Substitution c.988T>A p.Phe330Ile

Severity:

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

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Okawa T, et al. Prekallikrein deficiency in a dog. (2011) J Vet Med Sci 73(1):107–111.

Associated Breed(s):

Cavoodle, Mixed Breed, Moodle, Shih tzu,

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