Hereditary spectrin deficiency in Golden Retriever dogs.
Spectrin deficiency with increased erythrocyte osmotic fragility (OF) is a hallmark of hereditary spherocytosis, which is the most common congenital hemolytic anemia in humans of northern European ancestry. 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 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. In addition, OF was increased in 23 (17%) of 134 randomly chosen Golden Retrievers with nonhematologic diseases. In these Golden Retrievers, the spectrin concentration was decreased in 5 dogs with increased OF and within the reference range in 6 dogs with normal OF, indicating that in this population spectrin deficiency and increased OF are highly associated (P < .002). Considering these patients a representative sample of the Golden Retriever population in the Netherlands, spectrin deficiency may occur in 11.2-24.6% of Dutch Golden Retrievers (confidence level = 0.95). In blood smears, spherocytes were recognized only in dogs with immune-mediated anemia. At scanning electron microscopy, blood from spectrin-deficient Golden Retrievers showed slight crenation when fixed freshly but abundant echinospherocytes after 24 hours of incubation. We conclude that occult autosomal dominant spectrin deficiency occurs in dogs and is frequent in Dutch Golden Retrievers. It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans.
Slappendel
Robbert J
RJ
Department of Companion Animal Medicine, University of Utrecht, Utrecht, The Netherlands. rslappendel@cs.com
van Zwieten
Rob
R
van Leeuwen
Martin
M
Schneijdenberg
Chris T W M
CT
D000818:Animals; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D008297:Male; D009996:Osmotic Fragility; D010375:Pedigree; D013049:Spectrin / Q000172:deficiency*; D013103:Spherocytosis, Hereditary / Q000662:veterinary*
D013049:Spectrin