BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity

Salah, Nouran Yousef; Ali, Heba G. A.; Bassiouny, Noha; Salem, Lamyaa; Taha, Sara; Youssef, Mariam; Annaka, Layla; Barakat, Noha M.

doi:10.1055/s-0041-1728744

Cited by 1 publication

(1 citation statement)

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“…Fetal hemoglobin (HbF) is considered as a potent genetic modifier of β-Thalassemia and Sickle cell disease phenotype. 8 Patients with high HbF levels have shown to have longer life expectancy and lesser complications. 9 It has been shown that three genetic loci that carry DNA polymorphisms in BCL11A, β-globin and HBS1L-MYB genes are involved in modulation of HbF levels.…”

Section: Discussionmentioning

confidence: 99%

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

Soomro,

Wahid,

Mehmood

et al. 2023

Pak J Med Sci

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

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Section: Discussionmentioning

confidence: 99%