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Elliptocytosis

Breeds

Relevance Rating: Moderate evidence for test being meaningful in this breed

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Elliptocytosis
Gene Name 2
SPTBN1
Mutation
p.T2110M
Mutation 2
c.6384C>T
Test Type
Genetic Disease/Disorder
Details
Canine elliptocytosis causes normal red blood cells to be oval-shaped with serrated edges as opposed to the normal round shape. Dogs may be mildly anemic, and smaller than litermated. Age of onset from birth. Considered to be rare. Reported in both breed and cross or mixed breed dogs. Considered to be autosomal dominant in inheritance, but this may be in dispute.
Details 2
Canine elliptocytosis causes normal red blood cells to be oval-shaped with serrated edges as opposed to the normal round shape. Dogs may be mildly anemic, and smaller than litermated. Age of onset from birth. Considered to be rare. Reported in both breed and cross or mixed breed dogs. Considered to be autosomal dominant in inheritance, but this may be in dispute.
Published
Di Terlizzi, R., Gallagher, PG., Mohandas, N., Steiner, LA., Dolce, KS., Guo, X., Wilkerson, MJ., Stockham, SL. : Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8, 2009. Pubmed reference: 19228356. DOI: 10.1111/j.1939-165X.2008.00092.x
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