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<p>Transfusion-dependent <i>β</i>-thalassemia (TDT) is a severe genetic blood disorder with a high prevalence in India. While the genetic landscape is known to be diverse, a significant data gap exists regarding specific <i>HBB</i> gene mutations in TDT patients from Odisha. This study aimed to characterize the mutational spectrum and correlate it with clinical phenotypes in a regional TDT cohort.This single-center, cross-sectional observational study enrolled 252 TDT patients. We collected demographic, clinical, and laboratory data, and performed genetic analysis using a two-step approach: ARMS-PCR for common mutations and Sanger sequencing for rare variants. Statistical analysis determined genotype-phenotype correlations.The cohort was predominantly young and male-predominant, with a mean age of diagnosis of 1.4 years. The genetic analysis revealed a narrow mutational spectrum, with the <i>HBB</i>: c.92 + 5G &gt; C (IVS 1–5 G &gt; C) mutation being the most prevalent, representing 60.4% of homozygous cases. Only three distinct homozygous <i>HBB</i> mutation types identified, collectively accounting for all patients in the homozygous group (<i>n</i> = 187). A clear genotype-phenotype correlation was observed, with the homozygous group exhibiting significantly lower mean hemoglobin levels (4.8 ± 1.9&#xa0;g/dL) and higher transfusion requirements (1.9 ± 0.7 units/month) compared to the compound heterozygous group (<i>p</i> &lt; 0.0001).Our study demonstrates a narrow <i>HBB</i> mutational spectrum in this TDT cohort from Odisha, with a strong correlation between specific genotypes and clinical severity, particularly for hemoglobin levels and transfusion dependence. These findings underscore the importance of local genetic data for improving clinical management, guiding public health interventions, and informing the development of precision therapies.</p>

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Spectrum of HBB Gene Mutations and Genotype‒Phenotype Correlations in Transfusion Dependent β-thalassemia Patients in Odisha, India

  • 期刊论文

  • 发表日期：

    2026年7月27日

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  • Bhagyalaxmi Das,
  • Sashibhusan Dash,
  • Rabindra Kumar Jena,
  • Bisnu Prasad Dash

摘要

Transfusion-dependent β-thalassemia (TDT) is a severe genetic blood disorder with a high prevalence in India. While the genetic landscape is known to be diverse, a significant data gap exists regarding specific HBB gene mutations in TDT patients from Odisha. This study aimed to characterize the mutational spectrum and correlate it with clinical phenotypes in a regional TDT cohort.This single-center, cross-sectional observational study enrolled 252 TDT patients. We collected demographic, clinical, and laboratory data, and performed genetic analysis using a two-step approach: ARMS-PCR for common mutations and Sanger sequencing for rare variants. Statistical analysis determined genotype-phenotype correlations.The cohort was predominantly young and male-predominant, with a mean age of diagnosis of 1.4 years. The genetic analysis revealed a narrow mutational spectrum, with the HBB: c.92 + 5G > C (IVS 1–5 G > C) mutation being the most prevalent, representing 60.4% of homozygous cases. Only three distinct homozygous HBB mutation types identified, collectively accounting for all patients in the homozygous group (n = 187). A clear genotype-phenotype correlation was observed, with the homozygous group exhibiting significantly lower mean hemoglobin levels (4.8 ± 1.9 g/dL) and higher transfusion requirements (1.9 ± 0.7 units/month) compared to the compound heterozygous group (p < 0.0001).Our study demonstrates a narrow HBB mutational spectrum in this TDT cohort from Odisha, with a strong correlation between specific genotypes and clinical severity, particularly for hemoglobin levels and transfusion dependence. These findings underscore the importance of local genetic data for improving clinical management, guiding public health interventions, and informing the development of precision therapies.