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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Detalles Bibliográficos
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
Descripción
Sumario: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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