Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin

Maria Luigia Randi, Alessandra Murgia, Maria Caterina Putti, Maddalena Martella, Alberto Casarin, Giuseppe Opocher, Fabrizio Fabris

Research output: Contribution to journalArticle

Abstract

In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G→A; Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found.

Original languageEnglish
Pages (from-to)689-691
Number of pages3
JournalHaematologica
Volume90
Issue number5
Publication statusPublished - May 2005

Keywords

  • Chuvash polycythemia
  • Polycythemia
  • VHL gene

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin'. Together they form a unique fingerprint.

  • Cite this

    Randi, M. L., Murgia, A., Caterina Putti, M., Martella, M., Casarin, A., Opocher, G., & Fabris, F. (2005). Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haematologica, 90(5), 689-691.