Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

Blood. 2003 Aug 1;102(3):1097-9. doi: 10.1182/blood-2002-10-3246. Epub 2003 Apr 17.

Abstract

The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families in central Russia. Affected individuals have been reported to be homozygous for an Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. We have screened 78 patients with erythrocytosis and found 8 of Bangladeshi and Pakistani origin to be homozygous for the Arg200Trp mutation and another of English descent to be heterozygous. Of these patients, 5 have elevated serum erythropoietin (Epo) levels, while the other 4 have Epo values in the normal range. The heterozygous patient does not fulfill the Chuvash criterion for homozygosity of the Arg200Trp mutation and consequently may harbor a further, as yet uncharacterized, mutation. This mutation has a wider geographic distribution than originally presumed and haplotype analysis suggests a common origin of the Arg200Trp mutation in the 4 families, but it still remains to be established if it has arisen independently of the Chuvash population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia
  • Erythropoietin / blood
  • Europe
  • Family Health
  • Female
  • Gene Frequency
  • Heterozygote
  • Homozygote
  • Humans
  • Ligases / genetics*
  • Male
  • Mutation, Missense
  • Pedigree
  • Polycythemia / congenital*
  • Polycythemia / epidemiology
  • Polymorphism, Single Nucleotide
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein

Substances

  • Tumor Suppressor Proteins
  • Erythropoietin
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human