Abstract:
Introduction: Beta-thalassemia is among the most frequent monogenic disorders around the globe. Over
100,000 children worldwide require regular transfusion due to beta-thalassemia, with India accounting for
about 10% of cases ana a carrier rate of 5-17%. The disorder is caused by mutations in the beta-globin
(HBB) gene, especially in exon 3, which affects beta-globin production and leads to sever anemia. Genetic
testing is crucial for prenatal diagnosis, carrier screening, and counseling to manage and prevent the
disease. Material and Methods: The study was conducted on 47 beta-thalassemia patients aged 6
months to 18 years, with ethical approval. After informed consent, 1ml blood sample were collected. DNA
was extracted using the Kit, and Primers targeting exon 3 of the HBB gene were design. PCR amplification
was performed with specific cycling conditions, and products verified by gel electrophoresis. Results:
Sequencing identified a likely benign homozygous intronic variant g.5511G>C (rs107686883). Mutation
analysis in 47 patients revealed heterozygous mutations g.5401G>A. Conclusion: Missense mutations,
especially G>T transition, were common in HBB exon 3 of thalassemia major patients. Molecular screening
and genetic counseling are vital to reduce disease impact. G>A mutation caused severe early disease,
G>T moderate severity, and compound heterozygosity showed intermediate symptoms.
