Congenital Methemoglobinemia – All breeds
Kodas: H694
Short description
Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate.
General information
Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate. This variant, observed in a mixed-breed dog, is caused by a recessive mutation to the CYB5R3 gene. Another variant has been discovered in the German Spitz (Pomeranian).
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | CYB5R3 |
| Chromosome | 10 |
| Mutation | c.214G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Observed symptoms include coughing, shortness of breath, exercise intolerance, increased heart rate and cyanosis (blue coloration) of the membranes of the mouth and genitals. Affected dogs may also respond aggressively when touched on the head or neck. Increased methaemoglobin levels can be confirmed via blood analysis.
References
Pubmed ID: 28963729
Year published: 2017
Omia ID: 2131
Omia variant ID:
Turnaround information
- 10 working days