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Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand.

Shambhavi1, Umesh Kumar Ojha2, Mahino Fatima3

  • 1Department of Pediatrics, Shaheed Nirmal Mahto Medical College , Dhanbad, Jharkhand India.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|July 21, 2025
PubMed
Summary

This study investigated beta-thalassemia mutations in Jharkhand, India. The common c.92+5C>G mutation was highly prevalent in transfusion-dependent patients, highlighting regional genetic variations.

Keywords:
Hemoglobin monroeMutationThalassemia

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Area of Science:

  • Medical Genetics
  • Hematology

Background:

  • Thalassemia is a prevalent monogenic disorder globally, with India having a significant patient population.
  • Beta-thalassemia trait prevalence varies widely across India, necessitating localized genetic data.
  • Limited data exists on beta-thalassemia mutations in Jharkhand, a region with high prevalence.

Purpose of the Study:

  • To identify and characterize prevalent beta-thalassemia mutations in transfusion-dependent patients in Jharkhand.
  • To analyze the mutation spectrum in pediatric and adolescent patients (6 months to 18 years).

Main Methods:

  • Retrospective analysis of 51 transfusion-dependent thalassemia patients.
  • Collection of basic demographic data and blood samples for genetic analysis.
  • Identification of mutations using genetic sequencing.

Main Results:

  • The most common genotype was severe β+/severe β+ (78.4%), followed by severe β+/β0.
  • The mutation c.92+5C>G was the most frequent, observed in 88.2% of patients.
  • One case of the rare Hb Monroe (c.92G>C) mutation was identified.

Conclusions:

  • The c.92+5C>G mutation shows exceptionally high frequency in Jharkhand's thalassemia patients compared to national data.
  • This study addresses a knowledge gap regarding beta-thalassemia mutation spectrum in an under-represented Indian region.
  • Findings emphasize the importance of region-specific genetic screening for effective thalassemia management.