Responses of β-thalassemia and compound heterozygote of Sickle/βthalassemia of BCL11A Gene Polymorphism in Pakistani Patients

Background and Objective: Beta-thalassemia major (β-Thal) compound heterozygote of Sickle β-thalassemia (S-β Thal) are hereditary autosomal recessive disorders resulting from mutations or deletion in β-globin gene cluster. Patients with increased HbF levels having polymorphism at BCL11A site loci have shown clinical significance. The present study aimed to assess the frequency a population β-Thal, S-β Thal & Controls using Sanger sequencing leading plot response reference wild type.
 Methods: sample size is n=180, groups were divided Controls, β-thal thal. One ml blood was drawn patients controls extract DNA for PCR amplification locus genotyping sequencing. This carried out Dow Research Institute Biotechnology Biomedical Sciences, one year March 2021 February 2022.
 Results: three hyperbolic 83 16 close zero controls. heterozygous variant GA 51%. homozygous GG 49%. Complete absence type AA patient group. control group 43% (with male 18% female 21%) showing status 57%.
 Conclusions: SCD Beta thalassemia devoid status. 57% even population. Higher level B-thalassemia B Thalassemia cost-effective screening marker before switching an expensive testing.
 doi: https://doi.org/10.12669/pjms.39.6.7183
 How cite this: Soomro N, Wahid M, Mehmood Danish SH. Responses Sickle/βthalassemia Gene Polymorphism Pakistani Patients. Pak J Med Sci. 2023;39(6):---------. Open Access article distributed under terms Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, reproduction any medium, provided original work properly cited.