Spectrum of β-Globin Variants in Eastern Sudan: A Capillary Electrophoresis Study
Abstract
Background: Hemoglobinopathies constitute a significant genetic health challenge in Sudan, with more than 20 confirmed β-globin gene variants reported across the country. Nevertheless, despite this diversity, data from eastern regions remain poorly characterized. Objective: To characterize β-globin variants among patients investigated for hemoglobin disorders in Red Sea State, Sudan.Methodology: This hospital-based study was performed from December 2013 to December 2015. Among 600 patients screened for anemia, 55 patients with microcytic hypochromic anemia unrelated to iron deficiency were included. Hemoglobin fractions were analyzed using capillary electrophoresis and confirmed by molecular testing in selected cases. Hematologic parameters and hemoglobin fractions were statistically analyzed using SPSS.Results: The β-thalassemia trait was the most frequent diagnosis (52.7%). Sickle cell syndromes were also prevalent, including sickle cell trait (18.2%), sickle cell disease (14.5%), and HbS-β-thalassemia (12.7%). Critically, HbA₂ reveals a strong diagnostic screening marker for β-thalassemia (AUC = 0.803), with a cutoff of 3.45%. Elevated HbF levels were associated with severe phenotypes, reaching 10.0 ± 5.6% in sickle cell disease and 49.9% in β-thalassemia major.Conclusion: β-thalassemia and sickle cell disorders reveal a substantial clinical burden in eastern Sudan. HbA₂ has notable diagnostic utility for β-thalassemia trait, whereas HbF correlates with disease severity. These findings provide preliminary evidence that may inform future population-based screening strategies to improve clinical care.