An Immunological and Molecular Study to Investigate the Genes (β-globin and HBA1F) in Patients with Thalassemia in Najaf Governorate

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Abstract BACKGROUND: Thalassemia, a hereditary blood disorder, poses a significant health challenge globally. This study delves into the prevalence and characteristics of thalassemia, emphasizing the need for enhanced awareness and diagnostic measures, particularly in regions with high prevalence. The primary objective is to comprehensively investigate thalassemia, focusing on genetic mutations and hemoglobin (Hb) dynamics. The specific goals include identifying gene mutations through conventional polymerase chain reaction (PCR) and exploring the correlations between different Hb types. METHODS: Blood samples, totaling three milliliters for ethylenediaminetetraacetic acid tubes and 2 ml for gel tubes, were collected from thalassemia patients and a control group. Genomic DNA was extracted for conventional PCR analysis targeting α and β-globin (HBB) genes. The specific primers were designed, and PCR products were electrophoresed for the gene detection. Demographic characteristics were recorded, and Hb electrophoresis was performed to assess HbA, HbA2, and HbF levels. RESULTS: The study revealed the presence of the HBB gene in 100% of thalassemia patients causing beta-thalassemia, contrasting with the control group. The absence of the HBA1-F gene in alpha-thalassemia patients was observed. Demographic analysis showed no significant age or gender differences between the two groups. Thalassemia patients, analyzed alongside the control group, exhibit elevated HbA2 levels (2.7%–6.6%) and increased HbF levels (2%–12.1%), surpassing normal ranges (HbA2: 2%–3%, HbF: 0.8%–2%). CONCLUSION: The study confirms HBB gene association and proposes HBA1-F absence as an alpha-thalassemia diagnostic marker. Distinctive Hb patterns in thalassemia patients, highlighted by robust negative correlations (HbA-HbA2) and moderate correlations (HbA-HbF), advance diagnostic and management strategies for beta-thalassemia.