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<p>Thalassemia is a significant health issue in the Malwa region of Central India, contributing to a substantial burden of inherited hemoglobin disorders. Understanding the genetic mutations and their clinical impact is crucial for effective management. To analyze the genetic mutations in thalassemia patients from the Malwa region and correlate them with hematological parameters and clinical severity. Ninety-two patients with clinically diagnosed thalassemia underwent hemoglobin electrophoresis and whole exome sequencing (WES) for genetic analysis. Blood tests, including complete blood count (CBC) and iron studies, were conducted. Statistical analyses were applied to identify genotype-phenotype correlations. WES identified mutations in 91 patients, with Codon 26 (G→A) and IVS-I-5 (G→C) being the most common mutations, affecting 32.6% and 23.9% of the cohort, respectively. Novel mutations were detected in 9 patients (9.7%). Frameshift mutations, particularly at codons 41/42, were associated with more severe anemia (mean hemoglobin 6.9&#xa0;g/dL) and higher transfusion dependency (85%). Patients with high serum ferritin levels (mean 280 ± 90 ng/mL) exhibited significant iron overload, correlating with increased splenomegaly (<i>p</i> &lt; 0.01). A strong genotype-phenotype correlation was established, with statistical significance observed between mutation types and clinical outcomes (<i>p</i> &lt; 0.01). Our study highlights the genetic and clinical heterogeneity of β-thalassemia in the Malwa region, emphasizing the need for population-based screening and region-specific genetic counselling strategies. The identification of novel mutations, there in-silico pathogenicity predictions, and comparisons with mutation databases further strengthen the claim of novelty and clinical relevance. WES remains a critical tool for improving early diagnosis, risk assessment, and personalized treatment approaches for thalassemia patients.</p>

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Genetic landscape and hematological profiling of thalassemia in patients from the Malwa region, Central India

  • 期刊论文

  • 发表日期：

    2025年4月12日

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  • Susmit Kosta,
  • Shweta Bhandari,
  • Roshni Sahu,
  • Pallavi Joshi,
  • Vinod Bhandari

摘要

Thalassemia is a significant health issue in the Malwa region of Central India, contributing to a substantial burden of inherited hemoglobin disorders. Understanding the genetic mutations and their clinical impact is crucial for effective management. To analyze the genetic mutations in thalassemia patients from the Malwa region and correlate them with hematological parameters and clinical severity. Ninety-two patients with clinically diagnosed thalassemia underwent hemoglobin electrophoresis and whole exome sequencing (WES) for genetic analysis. Blood tests, including complete blood count (CBC) and iron studies, were conducted. Statistical analyses were applied to identify genotype-phenotype correlations. WES identified mutations in 91 patients, with Codon 26 (G→A) and IVS-I-5 (G→C) being the most common mutations, affecting 32.6% and 23.9% of the cohort, respectively. Novel mutations were detected in 9 patients (9.7%). Frameshift mutations, particularly at codons 41/42, were associated with more severe anemia (mean hemoglobin 6.9 g/dL) and higher transfusion dependency (85%). Patients with high serum ferritin levels (mean 280 ± 90 ng/mL) exhibited significant iron overload, correlating with increased splenomegaly (p < 0.01). A strong genotype-phenotype correlation was established, with statistical significance observed between mutation types and clinical outcomes (p < 0.01). Our study highlights the genetic and clinical heterogeneity of β-thalassemia in the Malwa region, emphasizing the need for population-based screening and region-specific genetic counselling strategies. The identification of novel mutations, there in-silico pathogenicity predictions, and comparisons with mutation databases further strengthen the claim of novelty and clinical relevance. WES remains a critical tool for improving early diagnosis, risk assessment, and personalized treatment approaches for thalassemia patients.