Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutatio...

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Autores principales: Acharyya, Saugata, Acharyya, Kakoli, Parasar, Archana, Pramanik, Shanto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820407/
https://www.ncbi.nlm.nih.gov/pubmed/31681694
http://dx.doi.org/10.4103/jfmpc.jfmpc_603_19
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author Acharyya, Saugata
Acharyya, Kakoli
Parasar, Archana
Pramanik, Shanto
author_facet Acharyya, Saugata
Acharyya, Kakoli
Parasar, Archana
Pramanik, Shanto
author_sort Acharyya, Saugata
collection PubMed
description The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features.
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spelling pubmed-68204072019-11-01 Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues Acharyya, Saugata Acharyya, Kakoli Parasar, Archana Pramanik, Shanto J Family Med Prim Care Case Report The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features. Wolters Kluwer - Medknow 2019-09-30 /pmc/articles/PMC6820407/ /pubmed/31681694 http://dx.doi.org/10.4103/jfmpc.jfmpc_603_19 Text en Copyright: © 2019 Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Acharyya, Saugata
Acharyya, Kakoli
Parasar, Archana
Pramanik, Shanto
Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title_full Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title_fullStr Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title_full_unstemmed Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title_short Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues
title_sort attenuation of phenotypical expression of severe hemophilia a in presence of simultaneous prothrombotic factor v mutation: the debate continues
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820407/
https://www.ncbi.nlm.nih.gov/pubmed/31681694
http://dx.doi.org/10.4103/jfmpc.jfmpc_603_19
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