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Primary Polycythemia (PP) is a blood disorder involving the overproduction of red blood cells, which can lead to a wide range of symptoms that may be mistaken for other diseases.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
Primary Polycythemia (PP) is a blood disorder involving the overproduction of red blood cells, which can lead to a wide range of symptoms that may be mistaken for other diseases. This variant of the disorder, first discovered in a crossbreed dog, is associated with a mutation to the gene JAK2. Other variants, which have been observed in e.g. the Poodle, Maltese and Yorkshire Terrier, do not have an associated mutation in scientific literature so far.
Caractéristiques cliniques
Polycythemia symptoms are often non-specific, but may include lethargy and weakness, and in more extreme cases heart disease or seizures. Blood analysis will show elevated haematocrit with low EPO levels.
Additional Information
This mutation is a risk factor, and is only one of several potential causes for polycythemia. The causal mutations in various breeds of dog have yet to be discovered.
Références
Pubmed ID: 21320566
Omia ID: 809