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Background <p>This study aimed to evaluate the role of two genetic polymorphisms (rs9399137 and rs4895441) in the <i>HBS1L-MYB</i> and rs766432 of <i>BCL11A</i> genes as determinant HbF level and disease severity in Egyptian β-thalassemia patients.</p> Methods <p>Blood 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, <i>HBS1L-MYB</i> (rs9399137 and rs4895441) SNPs and rs766432 of <i>BCL11A</i> were all assessed by ARMS-PCR .The <i>HBS1L-MYB</i> rs4895441 assessed by RFLP-PCR with the restriction enzyme (RSA1).</p> Results <p>The genotypic frequencies of the rs766432 SNP of <i>BCL11A</i> 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.</p> Conclusions <p>In Egyptian β-thalassemia patients, rs766432 in <i>BCL11A</i> 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.</p>

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

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  • 发表日期：

    2026年6月3日

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

摘要

Background

This 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.

Methods

Blood 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).

Results

The 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.

Conclusions

In 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.