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Elliptocytosis
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Elliptocytosis
OMIA
1318
Gene Name
SPTB
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
Published 2
Mills, J.N., Marsden, C.A. : Presumed hereditary elliptocytosis in a dog Australian Veterinary Journal 77:651-652, 1999. Pubmed reference: 10590790.
Body/System/Process
Blood
OMIA Url
Inheritance
AD
