Elliptocytosis
Kodas: H687
Short description
Elliptocytosis is a mild disorder which causes red blood cells to be formed oval-shaped (elliptocytes) instead of in the typical round "biconcave" shape.
General information
Elliptocytosis is a mild disorder which causes red blood cells to be formed oval-shaped (elliptocytes) instead of in the typical round “biconcave” shape. While typically harmless by itself, the disorder can leave affected dogs more vulnerable to other cardiovascular disorders. This variant of elliptocytosis, observed in a Labrador/Chow mixed-breed dog, is believed to be caused by a dominant mutation to the SPTB gene.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | SPTB |
| Chromosome | 8 |
| Mutation | c.6384C>T |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Unknown |
Clinical features
Elliptocytosis typically has no symptoms other than the altered blood cells themselves, which can be diagnosed via a veterinary blood smear test. Elliptocytes are more prone to rupture, leaving affected dogs at greater risk of anemia if complicating factors also exist.
Additional information
While scientific research has shown a connection between this variant mutation and the phenotype, the exact link and the manner in which the condition is inherited are still unknown.
References
Pubmed ID: 19228356
Year published: 2009
Omia ID: 1318
Omia variant ID:
Turnaround information
- 10 working days