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.
Read more here.