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Gene therapy by studying the effect of single nucleotide polymorphism (rs11886868 & rs766432) at the BcL11A gene on the severity of beta-thalassemia disease in the province of AL-Najaf
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| Author:
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HANAN A. ABLAA, WISAM NAJI ATIYAH AL-MEHANA, IBTIHAL KAREEM MAHDI, THUALFAKAR HAYDER HASAN
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| Abstract:
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This study includes 108 patients with ß-thalassemia (54 major, and 54 intermediate) who were divided into
subgroups (mild, moderate, and severe) based on the severity of the disease. Hematocrit, hemoglobin
electrophoresis & ferritin levels were measured, and Genotype analysis includes DNA extraction,
determination of DNA concentration, Polymerase chain reaction & electrophoresis processes. The analysis of
the genotype distribution of the severe and non-severe patients in the two studied groups, under various
inheritance models, highlighted significant differences in rs11886868 SNP under the co-dominant, and
dominant. A significant (P<0.001) difference was observed in the mean HbF levels between the three
genotypes in ß- thalassemia major and intermediate. Fetal hemoglobin levels were found to be high in CC
genotype-bearing patients followed by TC, and TT in ß- thalassemia major as well as intermedia. In contrast,
rs766432 failed to do so.
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| Keyword:
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beta-thalassemia, gene therapy, BcL11A gene, ARMS-PCR, HbF.
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| EOI:
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| DOI:
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https://doi.org/10.31838/ijpr/2021.13.01.553
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| Download:
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Request For Article
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