Evidence map›Paper›PMID 42237232›Full record

ArticleBMC genomic data2026

Genetic polymorphism of SNPs rs9399137 and rs4895441in HBS1L-MYB and SNP rs766432 in BCL11A among β-thalassemia Egyptian patients.

Abdelrahman A Abdelrahman, Randa M Talaat, Ibrahim Abdo El-Halfawy, Mohamed Ramzy Alalwi, Dina Malak Yousef Rizk

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Article in BMC genomic data, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Abdelrahman A AbdelrahmanDepartment of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt. abdelrahman.abdelhalim@gebri.usc.edu.eg.ORCID 0000-0003-3835-3082
Randa M TalaatDepartment of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt.
Ibrahim Abdo El-HalfawyDepartment of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt.
Mohamed Ramzy AlalwiGeneral Internal Medicine - Shebin El-Kom Teaching Hospital, Shebin El- Kom, Egypt.
Dina Malak Yousef RizkDepartment of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt.

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6 · The paper itself

Abstract

backgroundThis study aimed to evaluate the role of two genetic polymorphisms (rs9399137 and rs4895441) in the HBS1L-MYB and rs766432 of BCL11A genes as determinant HbF level and disease severity in Egyptian β-thalassemia patients.

methodsBlood samples were obtained from 100 participants, comprising 50 individuals with β-thalassemia and 50 healthy controls. Hematological assessment was conducted through complete blood count (CBC), ferritin measurement, and hemoglobin electrophoresis. After genomic DNA extraction was done, HBS1L-MYB (rs9399137 and rs4895441) SNPs and rs766432 of BCL11A were all assessed by ARMS-PCR .The HBS1L-MYB rs4895441 assessed by RFLP-PCR with the restriction enzyme (RSA1).

resultsThe genotypic frequencies of the rs766432 SNP of BCL11A and rs9399137 indicated that the genotype frequencies of these SNPs were significantly associated with severity of β thalassemia but there was no significant association between β-thalassemia severity and rs895441 SNP of HSB1L-MYB.

conclusionsIn Egyptian β-thalassemia patients, rs766432 in BCL11A and rs9399137 in HBSIL-MYB were found to significantly increase HbF levels, but rs4895441 was not. New tailored management techniques to decrease transfusion needs can be developed based on these findings, which show how genetic and clinical factors affect the severity of β-thalassemia. Further research involving a larger sample size and additional modifier genes is needed.

Indexed as

beta-ThalassemiaCarrier ProteinsGTP-Binding ProteinsNuclear ProteinsPeptide Elongation FactorsPolymorphism, Single NucleotideAdolescentAdultCase-Control StudiesChildEgyptFemaleFetal HemoglobinGene FrequencyGenotypeHumansBCL11A protein, humanCarrier ProteinsFetal HemoglobinGTP-Binding ProteinsHBS1L protein, humanMYB protein, humanNuclear ProteinsPeptide Elongation FactorsProto-Oncogene Proteins c-mybRepressor ProteinsBCL11A geneHSB1L-MYB geners4895441rs766432rs9399137β-thalassemia

Identifiers

PMID42237232
PMCPMC13235190

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