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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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | Hematology Reports |
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| Online Access: | https://www.mdpi.com/2038-8330/15/1/14 |
| _version_ | 1797611493944983552 |
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| author | Samuel Sarmiento Doncel Gina Alejandra Díaz Mosquera Javier Mauricio Cortes Carol Agudelo Rico Francisco Javier Meza Cadavid Ronald Guillermo Peláez |
| author_facet | Samuel Sarmiento Doncel Gina Alejandra Díaz Mosquera Javier Mauricio Cortes Carol Agudelo Rico Francisco Javier Meza Cadavid Ronald Guillermo Peláez |
| author_sort | Samuel Sarmiento Doncel |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T06:28:35Z |
| format | Article |
| id | doaj.art-ecc565007c6140f689458758a0ba060d |
| institution | Directory Open Access Journal |
| issn | 2038-8330 |
| language | English |
| last_indexed | 2024-03-11T06:28:35Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-ecc565007c6140f689458758a0ba060d2023-11-17T11:22:37ZengMDPI AGHematology Reports2038-83302023-02-0115113015010.3390/hematolrep15010014Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of InhibitorsSamuel Sarmiento Doncel0Gina Alejandra Díaz Mosquera1Javier Mauricio Cortes2Carol Agudelo Rico3Francisco Javier Meza Cadavid4Ronald Guillermo Peláez5Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, ColombiaIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, ColombiaIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, ColombiaIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, ColombiaIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, ColombiaLife Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, ColombiaThe 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.https://www.mdpi.com/2038-8330/15/1/14Haemophilia Ainhibitorsmutationstreatment |
| spellingShingle | Samuel Sarmiento Doncel Gina Alejandra Díaz Mosquera Javier Mauricio Cortes Carol Agudelo Rico Francisco Javier Meza Cadavid Ronald Guillermo Peláez Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors Hematology Reports Haemophilia A inhibitors mutations treatment |
| title | Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors |
| title_full | Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors |
| title_fullStr | Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors |
| title_full_unstemmed | Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors |
| title_short | Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors |
| title_sort | haemophilia a a review of clinical manifestations treatment mutations and the development of inhibitors |
| topic | Haemophilia A inhibitors mutations treatment |
| url | https://www.mdpi.com/2038-8330/15/1/14 |
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