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H694

Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate.

10 working days

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Caractéristiques

Breeds

Gene

Chromosome

10

Mutation

c.214G>A

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Informations générales

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).

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 28963729

Year published: 2017

Omia ID: 2131

Omia variant ID: 850

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