Genetic Test
The SPTB gene encodes β-spectrin, a protein that forms tetramers through dimerization and self-association.
Mutations in β-spectrin impair tetramer formation or stability, leading to altered red blood cell (RBC) shape.
This reduces RBC deformability in response to shear stress—the mechanical forces experienced by RBCs as they flow through blood vessels and interact with vessel walls and plasma components—resulting in decreased cellular stability.
Disease Description
This condition is characterized by elliptically shaped red blood cells caused by mutations in the gene encoding β-spectrin.
Affected animals are often asymptomatic but may have reduced physical stability of the RBC membrane.
Regular monitoring is recommended to assess hematologic status and prevent potential complications.
