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<p>Haemoglobin E β-thalassemia (Hb Eβ-thal), characterized by the presence of codon 26 (G &gt; A), <i>HBB</i>:c.79G &gt; A mutation with another pathogenic variant is a common blood disorder in South-Asia, especially in Bangladesh. The disorder can range from mild and asymptomatic anemia to life-threatening forms. Here, we performed molecular analysis to understand how mutations in the <i>HBB</i> gene and the XmnI polymorphism influence the severity and transfusion requirements in patients with Hb Eβ-thalassemia. This study found that individuals with the codon 16 (-C), <i>HBB</i>:c.51delC mutation required regular blood transfusions, whereas those with the codon 30 (G &gt; C), <i>HBB</i>:c.92G &gt; C mutation had the lowest transfusion dependency, at only 6.7%. Patients with codon 30 (G &gt; C), <i>HBB</i>:c.92G &gt; C mutation had the highest response to hydroxyurea therapy (76.7% (<i>n</i> = 23)), while patients with codon 16 (-C), <i>HBB</i>:c.51delC mutations had the lowest response (0% (<i>n</i> = 14)). The codon 16 (-C), <i>HBB</i>:c.51delC mutation was associated with the lowest mean HbF level (24.8%, SD = 7.7), whereas the codon 30 (G &gt; C), <i>HBB</i>:c.92G &gt; C mutation was associated with the highest mean HbF level (41.9%, SD = 16.10). Regarding XmnI polymorphism, codon 16 (-C), <i>HBB</i>:c.51delC mutation was associated with the highest wild type (-/-) (<i>n</i> = 11) genotype, while codon 30 (G &gt; C), <i>HBB</i>:c.92G &gt; C mutation was associated with the highest homozygous mutated (+/+) (<i>n</i> = 11) and the least wild type (-/-) (<i>n</i> = 4) of XmnI polymorphism genotype. This study provides clinically relevant insights into treatment strategies involving HU therapy and the management of Hb Eβ-thalassemia patients with codon 30 (G &gt; C), <i>HBB</i>:c.92G &gt; C and codon 16 (-C), <i>HBB</i>:c.51delC mutations.</p>

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The impacts of beta globin gene mutations and Xmn IGγ polymorphism (HBG2 c. -211 C > T) on the clinical features of Hb Eβ-thalassemia patients in Bangladesh

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  • 发表日期：

    2026年7月28日

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  • Md Abdul Aziz,
  • Mustak Ibn Ayub,
  • Waqar Ahmed khan,
  • Sabina Yeasmin

摘要

Haemoglobin E β-thalassemia (Hb Eβ-thal), characterized by the presence of codon 26 (G > A), HBB:c.79G > A mutation with another pathogenic variant is a common blood disorder in South-Asia, especially in Bangladesh. The disorder can range from mild and asymptomatic anemia to life-threatening forms. Here, we performed molecular analysis to understand how mutations in the HBB gene and the XmnI polymorphism influence the severity and transfusion requirements in patients with Hb Eβ-thalassemia. This study found that individuals with the codon 16 (-C), HBB:c.51delC mutation required regular blood transfusions, whereas those with the codon 30 (G > C), HBB:c.92G > C mutation had the lowest transfusion dependency, at only 6.7%. Patients with codon 30 (G > C), HBB:c.92G > C mutation had the highest response to hydroxyurea therapy (76.7% (n = 23)), while patients with codon 16 (-C), HBB:c.51delC mutations had the lowest response (0% (n = 14)). The codon 16 (-C), HBB:c.51delC mutation was associated with the lowest mean HbF level (24.8%, SD = 7.7), whereas the codon 30 (G > C), HBB:c.92G > C mutation was associated with the highest mean HbF level (41.9%, SD = 16.10). Regarding XmnI polymorphism, codon 16 (-C), HBB:c.51delC mutation was associated with the highest wild type (-/-) (n = 11) genotype, while codon 30 (G > C), HBB:c.92G > C mutation was associated with the highest homozygous mutated (+/+) (n = 11) and the least wild type (-/-) (n = 4) of XmnI polymorphism genotype. This study provides clinically relevant insights into treatment strategies involving HU therapy and the management of Hb Eβ-thalassemia patients with codon 30 (G > C), HBB:c.92G > C and codon 16 (-C), HBB:c.51delC mutations.