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Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors

The purpose of this narrative review was to provide an overview that allows readers to improve their understanding of hemophilia A, which is considered a genetic disease with a high impact on the quality of life of people who suffer from it is considered one of the diseases with the highest cost for...

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Detalles Bibliográficos
Autores principales: Sarmiento Doncel, Samuel, Díaz Mosquera, Gina Alejandra, Cortes, Javier Mauricio, Agudelo Rico, Carol, Meza Cadavid, Francisco Javier, Peláez, Ronald Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944491/
https://www.ncbi.nlm.nih.gov/pubmed/36810557
http://dx.doi.org/10.3390/hematolrep15010014
Descripción
Sumario:The purpose of this narrative review was to provide an overview that allows readers to improve their understanding of hemophilia A, which is considered a genetic disease with a high impact on the quality of life of people who suffer from it is considered one of the diseases with the highest cost for health systems (In Colombia it is part of the five diseases with the greatest economic impact). After this exhaustive review, we can see that the treatment of hemophilia is on the way to precision medicine, which involves genetic variables specific to each race and ethnicity, pharmacokinetics (PK), as well as environmental factors and lifestyle. Knowing the impact of each of these variables and their relationship with the efficacy of treatment (prophylaxis: regular infusion of the missing clotting factor VIII in order to prevent spontaneous bleeding) will allow for individualizing the medical behavior in a cost-effective way. For this is required to build more strong scientific evidence with statistical power that allows us to infer.