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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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
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author Barradas, João
Rodrigues, Catarina Dantas
Ferreira, Gisela
Rocha, Paula
Constanço, Conceição
Andrade, Maria Reis
Bento, Celeste
Silva, Helena Matos
author_facet Barradas, João
Rodrigues, Catarina Dantas
Ferreira, Gisela
Rocha, Paula
Constanço, Conceição
Andrade, Maria Reis
Bento, Celeste
Silva, Helena Matos
author_sort Barradas, João
collection PubMed
description 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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spelling pubmed-59860492018-06-07 Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene Barradas, João Rodrigues, Catarina Dantas Ferreira, Gisela Rocha, Paula Constanço, Conceição Andrade, Maria Reis Bento, Celeste Silva, Helena Matos Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-04-21 /pmc/articles/PMC5986049/ /pubmed/29881576 http://dx.doi.org/10.1002/ccr3.1499 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Barradas, João
Rodrigues, Catarina Dantas
Ferreira, Gisela
Rocha, Paula
Constanço, Conceição
Andrade, Maria Reis
Bento, Celeste
Silva, Helena Matos
Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title_full Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title_fullStr Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title_full_unstemmed Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title_short Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
title_sort congenital erythrocytosis – discover of a new mutation in the egln1 gene
topic Case Reports
url 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
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