Pharmacogenetics and personalized treatment in chronic congenital anemias: Integrated perspectives and a systematic review

Autorët

  • Agim Koçiraj Faculty of Medical Sciences, Albanian University.
  • Erda Qorri Faculty of Medical Sciences, Albanian University.
  • Fiona Nishani Faculty of Medical Sciences, Albanian University.
  • Kleva Shpati Faculty of Medical Sciences, Albanian University.
  • Dorian Kostandini Faculty of Medical Sciences, Albanian University.
  • Juventina Ngjela Faculty of Medical Sciences, Albanian University.
  • Erind Thartori Faculty of Medical Sciences, Albanian University.
  • Sabjola Subashi Faculty of Medical Sciences, Albanian University.

DOI:

https://doi.org/10.55312/op.v17i1.7251

Abstract

Objective: This comprehensive article explores the emerging role of pharmacogenetics in optimizing treatment for chronic congenital anemias, including β-thalassemia, sickle cell disease (SCD), and rare erythropoietic disorders. It integrates a systematic review with an in-depth clinical analysis of personal-ized medicine strategies. Methods: A systematic literature review (2015 - 2024) was conducted using PubMed, Scopus, and Web of Science, following PRISMA guidelines. Results: Genetic profiling significantly improves drug selection, dosing, and toxicity management in congenital anemias. Conclusion: Pharmacogenetics supports a transformative shift toward personalized therapy in hema-tology by improving efficacy, reducing adverse effects, and enabling the integration of novel targeted treatments.

Keywords:

pharmacogenetics, congenital anemia, personalized therapy, thalassemia, sickle cell disease, genetic testing.

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References

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Published

2025-06-01

How to Cite

Koçiraj, A., Qorri, E., Nishani, F., Shpati, K., Kostandini, D., Ngjela, J., … Subashi, S. (2025). Pharmacogenetics and personalized treatment in chronic congenital anemias: Integrated perspectives and a systematic review. Optime, 17(1), 54–60. https://doi.org/10.55312/op.v17i1.7251

Numër

No. 1 (2025): Optime

Section

Medicine