Peer-reviewed veterinary case report
Dog with elliptocytosis caused by a beta-spectrin mutation
By Di Terlizzi, Roberta et al.·Published in Veterinary clinical pathology·2009·Department of Veterinary Pathology, United States·View original on PubMed →
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Original publication title: Canine elliptocytosis due to a mutant beta-spectrin.
- Species:
- dog
Plain-English summary
A 5-year-old spayed female mixed-breed dog was found to have a condition called elliptocytosis, where her red blood cells were shaped like ellipses instead of the normal round shape. This was discovered while she was being evaluated for limping, although she showed no other symptoms. Tests revealed that her red blood cells were less flexible and had weaker membranes due to a genetic mutation affecting a protein called beta-spectrin. While the condition was asymptomatic, it indicates a structural issue with her red blood cells that could potentially lead to other health problems in the future.
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Abstract
A 5-year-old, spayed female, mixed-breed dog with persistent elliptocytosis was evaluated at the Veterinary Medical Teaching Hospital at Kansas State University. The elliptocytosis was asymptomatic and was detected during the evaluation of lameness. When subjected to shear stress in an ektacytometer, the dog's erythrocytes had reduced cellular deformability and erythrocyte membranes had decreased mechanical stability. Analysis of erythrocyte membrane spectrin by nondenaturing gel electrophoresis revealed an increased amount of spectrin dimers, indicating a defect in spectrin self-association. DNA analysis detected a beta-spectrin mutation in codon 2110 in which threonine was replaced by methionine. This mutation likely altered the molecular structure of the erythrocyte membrane, leading to impaired spectrin self-association and elliptocyte formation.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19228356/