Determination of mutations in the Beta globin gene in patients affected by B-thalassemia in Colombia.

The aim of this study is to identify and characterize mutations in the HBB gene, which encodes the β-globin chain of hemoglobin, in Colombian patients diagnosed with β-thalassemia. Molecular analysis will be performed using DNA-based molecular techniques and HBB gene sequencing to identify pathogenic variants, determine their frequency, and define the mutational spectrum within the Colombian population. In addition, genotype–phenotype correlations will be investigated by assessing the relationship between identified genetic variants and the clinical, hematological, and biochemical manifestations of the disease. The findings will improve the understanding of the molecular basis and genetic heterogeneity of β-thalassemia in Colombia, while supporting molecular diagnosis, genetic counseling, prenatal diagnosis, and the implementation of precision medicine strategies for the management of hemoglobin disorders.