Chuvash polycythemia is a congenital polycythemia that occurs in the region of Chuvashia in the mid-Volga river region of Russia.
Location: 3p25
Gene affected: von Hippel Lindau (VHL) protein
Mutation: arginine to tryptophan change at amino acid residue 200 (Arg200Trp) resulting in a missense mutation
Inheritiance: autosomal recessive (expressed when homozygous)
Mechanism: VHL protein is involved in the destruction of hypoxia-inducible factor 1 subunit alpha (HIF1alpha). The mutation results in impaired destruction of the HIV1alpha, which accumulates and which causes increased expression of erythropoietin and several other genes.
Diagnosis:
(1) family history of congenital polycythemia with autosomal recessive pattern
(2) Russian background
(3) elevated serum erythopoietin
(4) exclusion of other causes of polycythemia
(5) demonstration of the gene mutation
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