The Impact of BCL11A Variants and Immune Factors on β-Thalassemia Major in Iraqi | ||
| Egyptian Journal of Medical Microbiology | ||
| Articles in Press, Accepted Manuscript, Available Online from 01 July 2026 PDF (441.63 K) | ||
| Document Type: New and original researches in the field of Microbiology. | ||
| DOI: 10.21608/ejmm.2025.410212.1819 | ||
| Author | ||
| Oras M.S. Al-Taei* | ||
| Department of Microbiology, College of Medicine, University of Al-Qadisiyah, Diwaniyah, Iraq | ||
| Abstract | ||
| Background: β-Thalassemia major (β-TM) is a significant health problem in Iraq. Therefore, more studies and scientific research are needed to find appropriate solutions to this problem. Objectives: The existing research aims to determine the role of the polymorphism of the BCL11A (rs11886868) gene and evaluate its relationship with the development of β-TM severity and fetal hemoglobin (HbF) level in addition to appraising the character of complement factors and antibodies in the pathogenesis of β-TM in the Iraqi population. Methodology: Before receiving a blood transfusion, 45 patients with β-TM underwent clinical evaluations and blood samples were collected. High-performance liquid chromatography was used to quantitatively measure HbF, and polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) was used to analyze the single nucleotide polymorphism rs11886868 in the BCL11A gene. Moreover, enzyme-linked immunosorbent assay (ELISA) was used to detect antibodies and complement factors. Results: The current study showed that most children (56%) with thalassemia stood in the age group 9-14 years, and the highest percentage of infections was among females (58%).The immunological results showed that C3, C4, IgA, IgG, and IgM levels were elevated in β-TM patients (119.2 mg/ml,49.8 mg/ml, 292.2 mg/dl, 1851.2 mg/dl, and 242.11 mg/dl, respectively) compared HbF appeared to be elevated in β-TM patients (16.87 g/dl) compared with the healthy controls (1.73 g/dl). Conclusion: This study showed important alterations (p<0.05) in the distribution of mutant alleles, antibodies, complement factors, and HbF between patients and controls. | ||
| Keywords | ||
| β-TM; BCL11A gene; complement factors; antibodies; polymorphism | ||
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