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Canine elliptocytosis due to a mutant β‐spectrin
Author(s) -
Di Terlizzi Roberta,
Gallagher Patrick G.,
Mohandas Narla,
Steiner Laurie A.,
Dolce Karen S.,
Guo Xinhua,
Wilkerson Melinda J.,
Stockham Steven L.
Publication year - 2009
Publication title -
veterinary clinical pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 51
eISSN - 1939-165X
pISSN - 0275-6382
DOI - 10.1111/j.1939-165x.2008.00092.x
Subject(s) - spectrin , mutant , microbiology and biotechnology , mutation , epb41 , band 3 , biology , chemistry , membrane protein , biochemistry , membrane , cytoskeleton , cell , gene
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 β‐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.