OMIA:001228-9615 : Spherocytosis in Canis lupus familiaris (dog)
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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.|
- Created by Frank Nicholas on 10 Sep 2005
- Changed by Imke Tammen2 on 02 May 2023