Detecting Mutations Linked with Hemophilia A and B in Duhok Province
DOI:
https://doi.org/10.15218/crewh.2024.08Keywords:
FVIII Intron 22, FVIII Intron 1, FIX genes, SequencingAbstract
Background & Objectives: This study aimed to identify mutations associated with hemophilia A and B in patients from Duhok Province, Iraq. The study sought to characterize genetic mutations in FVIII and FIX genes and their impact on disease manifestation.
Materials and Methods: Seventy-five hemophiliac patients (62 with hemophilia A, 13 with hemophilia B) and 75 control subjects were included. DNA extraction, PCR amplification of specific gene regions, and sequencing were performed.
Results: Several novel mutations were identified, particularly in intron 22 of the FVIII gene and exon 4 of the FIX gene. No mutations were found in FVIII intron 1. Amino acid changes resulting from these mutations were observed.
Conclusion: The research reveals novel mutations associated with hemophilia A and B in the Duhok region, contributing to a better understanding of the genetic basis of these conditions.
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