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Barradas J, Rodrigues CD, Ferreira G, et al. Congenital erythrocytosis - discover of a new mutation in the . Clin Case Rep. 2018;6(6):1109-1111doi: 10.1002/ccr3.1499.
Barradas, J., Rodrigues, C. D., Ferreira, G., Rocha, P., Constanço, C., Andrade, M. R., Bento, C., & Silva, H. M. (2018). Congenital erythrocytosis - discover of a new mutation in the . Clinical case reports, 6(6), 1109-1111. https://doi.org/10.1002/ccr3.1499
Barradas, João, et al. "Congenital erythrocytosis - discover of a new mutation in the ." Clinical case reports vol. 6,6 (2018): 1109-1111. doi: https://doi.org/10.1002/ccr3.1499
Barradas J, Rodrigues CD, Ferreira G, Rocha P, Constanço C, Andrade MR, Bento C, Silva HM. Congenital erythrocytosis - discover of a new mutation in the . Clin Case Rep. 2018 Apr 21;6(6):1109-1111. doi: 10.1002/ccr3.1499. eCollection 2018 Jun. PMID: 29881576; PMCID: PMC5986049.
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Clin Case Rep. 2018 Apr 21;6(6):1109-1111. doi: 10.1002/ccr3.1499. eCollection 2018 Jun.

Congenital erythrocytosis - discover of a new mutation in the .

Clinical case reports

João Barradas, Catarina Dantas Rodrigues, Gisela Ferreira, Paula Rocha, Conceição Constanço, Maria Reis Andrade, Celeste Bento, Helena Matos Silva

Affiliations

  1. Centro Hospitalar de Tondela-Viseu EPE - Serviço de Hematologia Clínica Coimbra Portugal.
  2. Centro Hospitalar do Baixo Vouga EPE - Serviço de Hematologia Clínica Viseu Portugal.
  3. Centro Hospitalar e Universitário de Coimbra EPE - Serviço de Hematologia Clínica Coimbra Portugal.

PMID: 29881576 PMCID: PMC5986049 DOI: 10.1002/ccr3.1499

Abstract

Congenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF-α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. Considering an increased thrombotic potential, patients began antiplatelet aggregation therapy and phlebotomies.

Keywords: Congenital erythrocytosis; hypoxia; phd2; thrombosis

References

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