Publications by authors named "Samuel Sarmiento Doncel"
Comprehensive Screening of Genetic Variants in the Coding Region of in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Samuel Sarmiento Doncel Ronald Guillermo Peláez Pablo Lapunzina Fernando F Corrales-Medina Gina Alejandra Díaz Mosquera
Life (Basel)
August 2024
Article Synopsis
- Hemophilia A is an X-linked disorder caused by a deficiency of coagulation factor VIII, mainly due to mutations in the factor 8 gene, and this study focused on identifying genetic variants in Colombian males with severe hemophilia A.
- The study analyzed 50 participants and discovered 17 different pathogenic variants, with 70% being truncation variants and 35% being novel mutations not previously reported.
- A significant finding was that 75% of participants with a history of positive inhibitors had light chain variants, indicating a possible relationship between variant location and inhibitor risk, paving the way for personalized treatment strategies.
Article Synopsis
- The narrative review aims to enhance understanding of hemophilia A, a genetic disease that significantly affects the quality of life and is costly for health systems, particularly noted as one of the top economic burdens in Colombia.
- The review highlights the shift towards precision medicine in treating hemophilia, emphasizing the importance of genetic, pharmacokinetic, and environmental factors that affect treatment efficacy.
- Building robust scientific evidence with strong statistical backing is essential to personalize treatment approaches in a cost-effective manner.
Article Synopsis
- * The study included 12 patients with severe hemophilia A, aged 6 to 48, and found that 50% had an inversion of intron 22, which is associated with a higher risk of developing inhibitors.
- * Results showed that 83.3% of patients had null mutations, with 66.7% presenting high inhibitor titers, suggesting a need for further research on how these mutations impact treatment effectiveness and coagulation factors.
In recent decades, hemophilia A treatment has been focused on body weight, without taking pharmacokinetic parameters into account. Previous research has shown that the individual pharmacokinetic response is more effective in predicting the required dose of clotting factor. We want to evaluate the impact on reducing the frequency of bleeding in patients treated with recombinant factor VIII, based on a personalized comprehensive management program.
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