Polycythemia
General
Disease Name
Polycythemia
OMIA
809
Gene Name
JAK2
Mutation
c.1849G>T
Mutation 2
c.1853G>
Mutation 3
c.1852T>C
Mutation 4
a three-base codon change in 617 and 618
Mutation 5
p.C618L
Mutation 6
p.V617F
Mutation Notes
a three-base change in codons 617 and 618 of JAK2 giving rise to V617F and C618L
Test Type
Genetic Disease/Disorder
Details
Polycythemia is a rare disease in which too many red blood cells are produced by the bone marrow - the opposite of anemia.
Details 2
Primary polycythemia in dogs is classified as a myeloproliferative syndrome with a chronic progressive course and unspecific symptoms (Beurlet et al, 2011)
Published
Beurlet, S., Krief, P., Sansonetti, A., Briend-Marchal, A., Kiladjian, JJ., Padua, RA., Chomienne, C., Cassinat, B. : Identification of JAK2 mutations in canine primary polycythemia. Exp Hematol 39:542-5, 2011. Pubmed reference: 21320566. DOI: 10.1016/j.exphem.2011.02.003.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
A