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familial erythrocytosis type 2; VHL-dependent polycythemia; Chuvash type polycythemia
Pathology:
- increase in red blood cell mass
- hypersensitivity of erythroid progenitors to erythropoietin
Genetics:
- autosomal recessive
- associated with defects in VHL
Laboratory:
- complete blood count (CBC)
- increase in red blood cell mass
- increased serum erythropoietin levels
- arterial blood gas
- normal oxygen affinity
Complications:
- high risk for peripheral thrombosis & cerebrovascular events
General
familial erythrocytosis
Database Correlations
OMIM 263400
References
OMIM :accession 263400