Assessing the impact of HBB gene polymorphisms on the risk of beta thalassemia in the population of Diyala Governorate, Iraq
DOI:
https://doi.org/10.22317/imj.v8i2.1284Keywords:
SNP , HBB gene, polymorphism rs713040, Beta–thalassemia Major.Abstract
ObjectiveThe current research aims to investigate the genetic polymorphisms of the HBB gene and their relationship to the incidence of beta-thalassemia.
MethodsThe study included 30 patients with beta-thalassemia major. Samples were collected during the period between August 2023 and February 2024. Their ages ranged from 2–31 years, in addition to 30 healthy people who did not suffer from hereditary blood diseases as a control group. Their ages ranged from 1–35 years. The exon region of the HBB gene was sequenced using nucleotide sequencing in order to identify the kind and location of mutations that alter the amino acid sequence that makes up the hemoglobin protein.
ResultsThe results of DNA sequencing of the exon region of the HBB gene, which consists of 382 base pairs, showed the presence of the rs713040 variant. This variant revealed that the GG genotype and the G allele, and the AA genotype and the A allele, were more frequent in the patient group compared to the healthy group and may be associated with risk. When comparing some physiological variables with the genotypes of the HBB gene between the group of patients and healthy controls at the rs713040 variant site, the results showed that there were significant differences (P<0.001, P<0.05) in the levels of WBC, HB, PLT, PCT, ALP, and Vitamin D in the three genotypes of the variant GG, GA, and AA.
ConclusionThe findings suggest that the rs713040 variant of the HBB gene may be associated with an increased risk of beta-thalassemia and that there are significant physiological differences between the genotypes of this variant in patients and healthy controls. Further research is needed to understand the underlying mechanisms and the potential clinical implications of these genetic differences.
References
Alaithan, M. A., AbdulAzeez, S., & Borgio, J. F. (2018). A comprehensive review of the prevalence of beta-globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia. Saudi Medical Journal, 39(4), 329.
Aldakeel, S. A., Ghanem, N. Z., Al-Amodi, A. M., Osman, A. K., Al Asoom, L. I., Ahmed, N. R., ... & Borgio, J. F. (2020). Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients. Archives of Medical Science, 16(2), 453-459.
Al-Musawi, A. H. O., Aziz, H. M., Khudair, S., & Saleh, T. H. (2022). Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq. Biomedicine, 42(5), 1040-1043.
Cai, L., Bai, H., Mahairaki, V., Gao, Y., He, C., Wen, Y., ... & Cheng, L. (2018). A universal approach to correct various HBB gene mutations in human stem cells for gene therapy of beta-thalassemia and sickle cell disease. Stem cells translational medicine, 7(1), 87-97.
Chauhan, W., Afzal, M., Zaka-ur-Rab, Z., & Noorani, M. S. (2021). A novel frameshift mutation, deletion of HBB: C. 199_202delAAAG [Codon 66/67 (-AAAG)] in β-thalassemia major patients from the western region of Uttar Pradesh, India. The Application of Clinical Genetics, 77-85.
Diop, G., Coulanges, C., Derbois, C., Mbengue, B., Ndiaye, R., Thiam, A., ... & Dieye, A. (2020). G6PD and HBB polymorphisms in Senegalese population: prevalence and correlations with clinical malaria
Fasola, F. A., Babalola, O. A., Brown, B. J., Odetunde, A., Falusi, A. G., & Olopade, O. (2022). The effect of alpha thalassemia, HbF, and HbC on hematological parameters of sickle cell disease patients in Ibadan, Nigeria. Mediterranean Journal of Hematology and Infectious Diseases, 14(1).
Fucharoen, S., & Weatherall, D. J. (2012). The hemoglobin E thalassemias. Cold Spring Harbor perspectives in medicine, 2(8), a011734.
Hamed, O. M., Al-Taii, R. A., & Jankeer, M. H. (2021). Biochemical and Genetic Study in Blood of β–Thalassaemia Children in Mosul City, Iraq. Iraqi Journal of Science, 2501-2508.
Lai, Y., Zhou, L., Yi, S., Chen, Y., Tang, Y., Yi, S., ... & He, S. (2017). The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients. Blood Cells, Molecules, and Diseases, 63, 52-57.
Lopez-Perez, M., Viwami, F., Doritchamou, J., Ndam, N. T., & Hviid, L. (2022). Natural acquired immunity to malaria antigens among pregnant women with hemoglobin c trait. The American journal of tropical medicine and hygiene, 106(3), 853.
Ray, R., Biswas, A., Bhattacharjee, S., & Bhattacharyya, M. (2018). Phenotypes of Hb Okayama Mutation. Blood, 132, 4898.
Weatherall, D. J. (2001). Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics, 2(4), 245-255.
Wienert, B., Martyn, G. E., Funnell, A. P., Quinlan, K. G., & Crossley, M. (2018). Wake-up sleepy gene: reactivating fetal globin for β-hemoglobinopathies. Trends in Genetics, 34(12), 927-940.
Yaghooti, H., Mirlohi, M. S., Shirali, S., & Aminasnafi, A. (2021). Characterization of Common β-Thalassemia Major Mutations in Southwest Iran with Respect to Biochemical Parameters, Oxidative Status and Complications. Journal of Advanced Biomedical Sciences.
Zakaria, N. A., Bahar, R., Abdullah, W. Z., Mohamed Yusoff, A. A., Shamsuddin, S., Abdul Wahab, R., & Johan, M. F. (2022). Genetic Manipulation Strategies for β-Thalassemia: A Review. Frontiers in Pediatrics, 10, 901605.
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