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The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India

Rakesh K Jha1, Meghali Kaple1, Ranjit S Ambad1

  • 1Department of Biochemistry, Jawaharlal Nehru Medical College, Datta Meghe, Institute of Higher Education and Research (DU), Wardha, Maharashtra, India.

Journal of Pharmacy & Bioallied Sciences
|February 10, 2025
PubMed

Insights

Neonatal screening in Central India identified significant prevalence of sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency in tribal newborns. Early detection is crucial for managing these genetic disorders.

Area of Science:

  • Genetics
  • Public Health
  • Neonatal Screening

Background:

  • Sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are prevalent genetic disorders in Central India.
  • Tribal populations are particularly affected by these conditions.
  • Neonatal screening offers a pathway for early detection and improved health outcomes.

Purpose of the Study:

  • To determine the prevalence of SCD, thalassemia, and G6PD deficiency in newborns from tribal regions of Central India.
  • To evaluate the efficacy of existing neonatal screening programs for these genetic disorders.

Main Methods:

  • Screening of 382 newborns from tribal areas.
  • High-performance liquid chromatography (HPLC) used for hemoglobinopathies.
  • Colorimetric method employed for G6PD deficiency detection.
  • Demographic and family history data were collected and analyzed.

Main Results:

  • Prevalence rates: 5.8% for SCD, 9.7% for thalassemia, and 7.6% for G6PD deficiency.
  • A notable correlation was observed between family history and the incidence of these disorders.
  • Identified a substantial burden of these genetic conditions in the screened cohort.

Conclusions:

  • Comprehensive neonatal screening programs are essential for tribal populations in Central India.
  • Early detection and management of SCD, thalassemia, and G6PD deficiency can significantly improve patient outcomes.
  • Findings underscore the public health importance of targeted genetic screening in vulnerable communities.
Abstract

Keywords:
G6PD deficiencyneonatal screeningsickle cell diseasethalassemiatribal populations

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