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

@article{Percy2003ChuvashtypeCP,
  title={Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.},
  author={Melanie Joan Percy and Mary Frances McMullin and Simon N Jowitt and Michael L Potter and Marilyn Treacy and William H. Watson and Terence R. J. Lappin},
  journal={Blood},
  year={2003},
  volume={102 3},
  pages={1097-9}
}
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… CONTINUE READING