Erythrocytosis due to a mutation in the erythropoietin receptor gene

M J Percy, M F McMullin, A W Roques, N B Westwood, J Acharya, A E Hughes, T R Lappin, T C Pearson

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41 Citations (Scopus)


Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family. We have investigated the cause of erythrocytosis in an English boy. Sequencing of the cytoplasmic region of the EpoR detected a de novo transition mutation of G to A at nucleotide 6002. This mutation resulted in the formation of a stop codon at amino acid 439 with the loss of 70 amino acids from the carboxy terminus. The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations.
Original languageEnglish
Pages (from-to)407-410
Number of pages4
JournalBritish Journal of Haematology
Issue number2
Publication statusPublished - Feb 1998


  • Adolescent
  • Exons
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Polycythemia
  • Receptors, Erythropoietin

ASJC Scopus subject areas

  • Hematology


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