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

• Published in: Hematology reports Vol. 15; no. 1; pp. 130 - 150
• Main Authors: Sarmiento Doncel, Samuel, Díaz Mosquera, Gina Alejandra, Cortes, Javier Mauricio, Agudelo Rico, Carol, Meza Cadavid, Francisco Javier, Peláez, Ronald Guillermo
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 16.02.2023; MDPI
• Subjects: Blood platelets; Clotting; Coagulation factors; Environmental factors; Enzymes; Family medical history; Females; Genetic disorders; Haemophilia A; Hemophilia; inhibitors; Mutation; mutations; Pharmacokinetics; Precision medicine; Prophylaxis; Quality of life; Review; Reviews; treatment; X chromosomes; inhibitors; treatment; Haemophilia A; mutations
• ISSN: 2038-8322; 2038-8330; 2038-8330
• DOI: 10.3390/hematolrep15010014

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.