Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene

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...

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Detalles Bibliográficos
Autores principales: Barradas, João, Rodrigues, Catarina Dantas, Ferreira, Gisela, Rocha, Paula, Constanço, Conceição, Andrade, Maria Reis, Bento, Celeste, Silva, Helena Matos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986049/
https://www.ncbi.nlm.nih.gov/pubmed/29881576
http://dx.doi.org/10.1002/ccr3.1499
Descripción
Sumario: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.

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