Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Fiche publication

Date publication

octobre 2013


European journal of haematology


Membres identifiés du Cancéropôle Est :
Pr GIRODON François, Dr ROSSI Cédric

Tous les auteurs :
Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML


Congenital erythrocytosis can be classified as primary, when the defect is intrinsic to the RBC progenitors and independent of the serum erythropoietin (Epo) concentration, or secondary, when the erythrocytosis is the result of an upregulation of Epo production. Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene - VHL, EGLN1, EPAS1. Chuvash polycythemia, caused by mutations in VHL gene, shares features of both primary and secondary erythrocytosis, with increased Epo production but also hypersensitivity of progenitors to Epo.

Mots clés

Adolescent, Adult, Aged, Carrier Proteins, genetics, Child, DNA Mutational Analysis, Female, Hemoglobins, Abnormal, genetics, Humans, Hypoxia-Inducible Factor-Proline Dioxygenases, genetics, Janus Kinase 2, genetics, Male, Middle Aged, Molecular Biology, Mutation, Oxygen, metabolism, Polycythemia, congenital, Receptors, Erythropoietin, genetics


Eur. J. Haematol.. 2013 Oct;91(4):361-8