Chuvash-type polycythaemiaAn autosomal recessive disorder (OMIM:263400) characterised by an increased red cell mass, hypersensitivity of erythroid stem cells to erythropoietin, increased serum erythropoietin levels, and normal oxygen affinity. Patients with Chuvash polycythaemia are at risk for peripheral thrombosis and cerebrovascular events.
Caused by defects of VHL, which encodes a protein involved in ubiquitination and degradation of hypoxia-inducible factor, a transcription factor that plays a central role in regulating gene expression by oxygen.
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