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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