Volume 6 | Issue -14
Volume 6 | Issue -14
Volume 6 | Issue -14
Volume 6 | Issue -14
Volume 6 | Issue -14
Background: β-thalassemia is a group of inherited blood disorders marked by decreased (β+) or absent (β0) production of the beta globin chain of hemoglobin tetramer. It causes three progressively worse hematological and clinical diseases. Patients and Methods: The study involved 45 cases of β-thalassemia, with 24 males and 21 females. The participants' average age was 8.3 ± 3.2. There were 40 patients with major thalassemia and five with intermediate thalassemia. A control group of 15 cases, comprising 9 men and 6 females, had a mean age of 8.8 ± 3.4 years. HB, iron, ferritin, copper, and zinc levels were evaluated in all instances. The rs2071348 SNP for the HBBP1 gene mutation was genotyped using the Thermo Scientific ARKTIK Thermal Cycler at the SIGMA SCIENTIFIC genetic laboratory. Results: Individuals with β-thalassemia had markedly elevated levels of iron, ferritin, and copper in comparison to the control group. β-thalassemia cases had markedly reduced amounts of hemoglobin and zinc in comparison to the control group. Significant differences were observed in the HBBP1 genotyping and alleles between individuals with β-thalassemia and the control group. There was a substantial difference in the distribution of homogeneous and heterogeneous HBBP1 genotyping between β-thalassemia cases and the control group. In β-thalassemia cases, the CC genotype was more common (84.4%) compared to the control group (46.7%). No AA genotyping was present in the control group. Conclusion: The C/C and A/A genotypes were more common and linked in both β-TM and β-TI patients compared to healthy individuals. β-thalassemia cases showed significantly elevated levels of iron, ferritin, and copper in comparison to the control group (P-value < 0.001). β-thalassemia cases had markedly reduced hemoglobin and zinc levels in comparison to the control group (P-value < 0.001).