Alpha-Hemoglobin Stabilizing Protein Gene Polymorphism (rs4499252 A/G) and its Association with Beta-Thalassemia Major in Iraqi Patients

Beta thalassemia (β-thalassemia) major is a genetic disorder of hemoglobin production that results in a diminished rate of synthesis of one or more of the globin chains causing variable degrees of anemia. Alpha-hemoglobin-stabilizing protein (AHSP) is a specific alpha-globin factor that affects the severity of the disease in patients with β-thalassemia. A recent study was conducted to investigate the polymorphism in the AHSP (rs4499252) gene and its association with β-thalassemia in Iraq. Blood samples were obtained from 90 β-thalassemia patients and 60 healthy individuals as a control group in the Wasit Center for Hereditary Anemia from August 2020 to January 2021. After DNA extraction from the whole blood, to determine the genotype of the AHSP gene, the High-Resolution Melt (HRM) Real-Time PCR was used. The results showed a significant increase (P<0.05) in genotype GG (wild type) of the SNP (rs4499252) in β-thalassemia patients, compared to the control group. On the other hand, genotype AA was significantly higher (P≤0.05) in β-thalassemia patients than in the control group, while the genotype GA showed a non-significant difference (P<0.01) between β-thalassemia patients and the healthy controls. The results also showed that the AHSP expression is a biomarker of hemoglobin H disease severity, and the A allele was more frequent in β-thalassemia patients than the G allele in Iraqi patients.