A widely prevalent hemoglobin beta mutation among beta-thalassemia patients in Assiut University Hospitals

Background:
The hemoglobin beta (HBB) gene has been associated with over 400 mutations linked to β-thalassemia, as documented in the IthaGenes database. Pinpointing the commonest mutations within this range is challenging and varies depending on the population studied. In Egypt, β-thalassemia constitutes a significant public health concern like many Mediterranean nations. The geographic site of Egypt, in the center of the Middle East, close to the Mediterranean countries, allows for the genetic admixture of Egyptians with multiple populations of various ethnic and geographic origins. Only a single study has focused on Upper Egypt, including Assiut. Methods: In this study we employed an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the HBB: c.93-21G>A [IVS-1-110(G>A)] mutation.


Aim:
to detect the prevalence of the mutation among Assiut University Hospital patients.


Results:
Our findings indicate that the mutation was found in 54 out of 150 (36%) subjects analyzed. Among these, 31 out of 54 (57.4%) were heterozygous, and 23 out of 54 (42.5%) were homozygous.


Conclusion:
Based on these results, we recommend that laboratories may utilize the ARMS-PCR technique for initial screening of this mutation as a cost-effective and straightforward DNA diagnostic tool, prior to conducting a comprehensive analysis of the rest of the HBB gene.