What is Chuvash polycythemia?

By William Aird

Congenital secondary erythrocytosis caused by mutations in oxygen sensing/hypoxia-inducible factor (HIF) signaling pathway (autosomal recessive mutations in VHL gene, a negative regulator of hypoxia sensing).

  • First hereditary condition of augmented hypoxia sensing to be recognized.
  • Autosomal recessive disorder with increased serum erythropoietin levels and hemoglobin concentrations in normoxia.
  • Hundreds of patients with Chuvash polycythemia are found in the Chuvash population of central Russia.
  • Mutation for Chuvash polycythemia is 598C>T in the von Hippel-Lindau gene (VHL) on chromosome 3p25.

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