Molecular genetics analysis of genes BCL11A, HBS1L-MYB, and HBG2 variants association in thalassemic children.

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-09-08 DOI:10.1080/17410541.2026.2726977

Rongjian Lu, Kashif Bashir, Hafiza Tayyaba Manzoor, Ayesha Imran, Muhammad Kashif, Umbreen Tabasum, Iqra Saqim Nadeem, Muhammad Umar, Amin A Alamin

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Abstract

Background: Association of the BCL11A (rs4671393), HBG2 (rs7482144), and HBG2HBS1L-MYB (rs28384513, rs9399137, and rs4895441) variants with susceptibility to thalassemia was observed.

Methodology: Blood samples from 600 individuals, including 300 thalassemia patients and 300 controls, age- and gender-matched, were collected. DNA was extracted, followed by DNA Amplification.

Results: Results show that the homozygous mutant (GG) of variant rs4671393 of the BCL11A gene showed a strong association with increased risk of thalassemia by 3-fold (OR = 3.05; p = 0.0002), heterozygous (AG) also showed a strong association but with a decreased risk (OR = 0.49; p = 0.0028). The heterozygote (AC) and the mutant of variant rs28384513 of gene HBG2HBS1L-MYB showed a significant association by increasing the risk of thalassemia by 2-fold (OR = 2.07; p = 0.001; OR = 2.79; p = 0.0002, respectively). In the case of rs4895441 of gene HBS1L-MYB, the AG heterozygote showed a significant association by increasing the risk by 2.55-fold (OR = 2.55; p = 0.0002). For gene HBG2, the heterozygote (CT) of the rs7482144 variant significantly decreased the risk of thalassemia (OR = 0.37; p = 0.0001). Its homozygous mutant (TT) also showed a significant association, but with an increased risk of thalassemia by 2-fold (OR = 1.81; p = 0.036). .

Conclusion: The polymorphisms rs4671393 (BCL11A), rs7482144 (HBG2), and rs28384513, rs9399137, and rs4895441 (HBS1L-MYB) are significantly associated with an increased risk of thalassemia.

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地中海贫血儿童BCL11A、HBS1L-MYB和HBG2变异相关基因的分子遗传学分析

背景：观察到BCL11A （rs4671393）、HBG2 （rs7482144）和HBG2HBS1L-MYB （rs28384513、rs93999137和rs4895441）变异与地中海贫血易感性的关联。方法：收集了600人的血液样本，其中包括300名地中海贫血患者和300名对照组，年龄和性别匹配。提取DNA，进行DNA扩增。结果：BCL11A基因变体rs4671393的纯合突变体（GG）与地中海贫血风险增加3倍有较强的相关性（OR = 3.05; p = 0.0002），杂合突变体（AG）与地中海贫血风险增加有较强的相关性（OR = 0.49; p = 0.0028）。HBG2HBS1L-MYB基因杂合子（AC）与变异rs28384513突变体存在显著相关性，地中海贫血风险增加2倍（OR = 2.07; p = 0.001; OR = 2.79; p = 0.0002）。在HBS1L-MYB基因rs4895441的病例中，AG杂合子显示出显著的相关性，使风险增加了2.55倍（OR = 2.55; p = 0.0002）。对于HBG2基因，rs7482144变异的杂合子（CT）显著降低了地中海贫血的风险（OR = 0.37; p = 0.0001）。其纯合突变体（TT）也显示出显著的相关性，但与地中海贫血的风险增加2倍（OR = 1.81; p = 0.036）。结论：rs4671393 （BCL11A）、rs7482144 （HBG2）、rs28384513、rs93999137和rs4895441 （HBS1L-MYB）多态性与地中海贫血风险增加显著相关。

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Personalized medicine

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