Chuvash-type polycythaemia

An 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.
Molecular pathology
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.

单词	chuvash-type polycythaemia
释义	Chuvash-type polycythaemia Chuvash-type polycythaemia An 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. Molecular pathology 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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