Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation

Mild hemophilia A is caused by a missense mutation in the FVIII gene that is responsible for a decrease in the FVIII:C to between 5% and 40%. The development of FVIII inhibitors has been reported in 3-13% of patients with mild hemophilia. Genetic risk factors for the development of inhibitors in mil...

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Autores principales: Yamanouchi, Jun, Tokumoto, Daiki, Ikeda, Yuichi, Maruta, Masaki, Kaneko, Masahiko, Hato, Takaaki, Yasukawa, Masaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262709/
https://www.ncbi.nlm.nih.gov/pubmed/29877292
http://dx.doi.org/10.2169/internalmedicine.1145-18
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author Yamanouchi, Jun
Tokumoto, Daiki
Ikeda, Yuichi
Maruta, Masaki
Kaneko, Masahiko
Hato, Takaaki
Yasukawa, Masaki
author_facet Yamanouchi, Jun
Tokumoto, Daiki
Ikeda, Yuichi
Maruta, Masaki
Kaneko, Masahiko
Hato, Takaaki
Yasukawa, Masaki
author_sort Yamanouchi, Jun
collection PubMed
description Mild hemophilia A is caused by a missense mutation in the FVIII gene that is responsible for a decrease in the FVIII:C to between 5% and 40%. The development of FVIII inhibitors has been reported in 3-13% of patients with mild hemophilia. Genetic risk factors for the development of inhibitors in mild hemophilia have been investigated. In the present study, we encountered a case of mild hemophilia with an FVIII inhibitor and identified the mutation responsible: a novel Phe595Cys mutation in the FVIII gene. In addition, this study showed that the inhibitor recognized exogenous wild-type FVIII and autologous mutant FVIII.
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spelling pubmed-62627092018-11-30 Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation Yamanouchi, Jun Tokumoto, Daiki Ikeda, Yuichi Maruta, Masaki Kaneko, Masahiko Hato, Takaaki Yasukawa, Masaki Intern Med Case Report Mild hemophilia A is caused by a missense mutation in the FVIII gene that is responsible for a decrease in the FVIII:C to between 5% and 40%. The development of FVIII inhibitors has been reported in 3-13% of patients with mild hemophilia. Genetic risk factors for the development of inhibitors in mild hemophilia have been investigated. In the present study, we encountered a case of mild hemophilia with an FVIII inhibitor and identified the mutation responsible: a novel Phe595Cys mutation in the FVIII gene. In addition, this study showed that the inhibitor recognized exogenous wild-type FVIII and autologous mutant FVIII. The Japanese Society of Internal Medicine 2018-06-06 2018-11-01 /pmc/articles/PMC6262709/ /pubmed/29877292 http://dx.doi.org/10.2169/internalmedicine.1145-18 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Yamanouchi, Jun
Tokumoto, Daiki
Ikeda, Yuichi
Maruta, Masaki
Kaneko, Masahiko
Hato, Takaaki
Yasukawa, Masaki
Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title_full Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title_fullStr Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title_full_unstemmed Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title_short Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation
title_sort development of an fviii inhibitor in a mild hemophilia patient with a phe595cys mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262709/
https://www.ncbi.nlm.nih.gov/pubmed/29877292
http://dx.doi.org/10.2169/internalmedicine.1145-18
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