OMIA:001228-9615 : Spherocytosis in Canis lupus familiaris (dog)

In other species: taurine cattle , North American deer mouse

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 109270 (gene) , 182900 (trait) , 612653 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: no

Species-specific name: Hereditary spectrin deficiency

Species-specific description: Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: "A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. ... It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans."

Breed: Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001228-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Jensen, A.L., Krogh, A.K.H. :
Detection of spherocytosis in dogs with immune-mediated hemolytic anemia. Vet Clin Pathol 52:213-216, 2023. Pubmed reference: 37272477. DOI: 10.1111/vcp.13235.
2022 Saint-Pierre, L.M., Burkitt-Creedon, J.M., H Alonso, F., Wun, M.K. :
Exertional hemolysis and hematuria in a Labrador Retriever dog. J Vet Diagn Invest 34:968-971, 2022. Pubmed reference: 36184929. DOI: 10.1177/10406387221127268.
2005 Slappendel, RJ., van Zwieten, R., van Leeuwen, M., Schneijdenberg, CT. :
Hereditary spectrin deficiency in Golden Retriever dogs. J Vet Intern Med 19:187-92, 2005. Pubmed reference: 15822562.

Edit History

  • Created by Frank Nicholas on 10 Sep 2005
  • Changed by Imke Tammen2 on 02 May 2023