Prevalence and Clinical Correlation of Intron 22 Inversion in Hemophilia A in Northeast India
This study confirms a strong correlation between intron 22 inversion and severe hemophilia A, consistent with global and Indian studies. It emphasizes the need for routine genetic screening for early diagnosis and personalized treatment strategies, including genetic counseling. Future research should explore other F8 mutations, gene therapy, and the role of intron 22 inversion in inhibitor development.
Authors
- Akella V. S. Sarma (ORCID: https://orcid.org/0000-0001-9504-3553)
- R. S. D. Barman
- Zarika Ahmed
- Anupam Dutta (ORCID: https://orcid.org/0000-0003-4522-4537)
Institutions
- Assam Medical College (IN)
Publication Details
- Journal
- Cureus
- Published
- 2025-04-16
- DOI
- https://doi.org/10.7759/cureus.82365
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00