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

Background: Sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are significant genetic disorders prevalent in Central India, particularly among tribal populations. Early detection through the neonatal screening can improve health outcomes. Aim and Objecti...

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Main Authors: Rakesh K. Jha, Meghali Kaple, Ranjit S. Ambad, Archana Dhok, Ashsish Anjankar
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-12-01
Series:Journal of Pharmacy and Bioallied Sciences
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Online Access:https://journals.lww.com/10.4103/jpbs.jpbs_1397_24
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author Rakesh K. Jha
Meghali Kaple
Ranjit S. Ambad
Archana Dhok
Ashsish Anjankar
author_facet Rakesh K. Jha
Meghali Kaple
Ranjit S. Ambad
Archana Dhok
Ashsish Anjankar
author_sort Rakesh K. Jha
collection DOAJ
description Background: Sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are significant genetic disorders prevalent in Central India, particularly among tribal populations. Early detection through the neonatal screening can improve health outcomes. Aim and Objective: This study aims to assess the prevalence of SCD, thalassemia, and G6PD deficiency in a cohort of newborns from tribal regions in Central India and to evaluate the effectiveness of neonatal screening programs. Materials and Methods: A total of 382 newborns were screened using high-performance liquid chromatography (HPLC) for hemoglobinopathies and a colorimetric method for G6PD deficiency. Data on demographics and family history were collected and analyzed. Results: The screening revealed 22 cases of SCD (5.8%), 37 cases of thalassemia (9.7%), and 29 cases of G6PD deficiency (7.6%). A significant correlation was found between family history and the prevalence of these disorders. Conclusion: The findings highlight the need for comprehensive neonatal screening programs in tribal populations to enhance early detection and management of genetic disorders.
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spelling doaj-art-01c8c13fd7494100850ba2edcb3505ca2025-01-13T10:56:22ZengWolters Kluwer Medknow PublicationsJournal of Pharmacy and Bioallied Sciences0976-48790975-74062024-12-0116Suppl 4S4026S402910.4103/jpbs.jpbs_1397_24The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central IndiaRakesh K. JhaMeghali KapleRanjit S. AmbadArchana DhokAshsish AnjankarBackground: Sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are significant genetic disorders prevalent in Central India, particularly among tribal populations. Early detection through the neonatal screening can improve health outcomes. Aim and Objective: This study aims to assess the prevalence of SCD, thalassemia, and G6PD deficiency in a cohort of newborns from tribal regions in Central India and to evaluate the effectiveness of neonatal screening programs. Materials and Methods: A total of 382 newborns were screened using high-performance liquid chromatography (HPLC) for hemoglobinopathies and a colorimetric method for G6PD deficiency. Data on demographics and family history were collected and analyzed. Results: The screening revealed 22 cases of SCD (5.8%), 37 cases of thalassemia (9.7%), and 29 cases of G6PD deficiency (7.6%). A significant correlation was found between family history and the prevalence of these disorders. Conclusion: The findings highlight the need for comprehensive neonatal screening programs in tribal populations to enhance early detection and management of genetic disorders.https://journals.lww.com/10.4103/jpbs.jpbs_1397_24g6pd deficiencyneonatal screeningsickle cell diseasethalassemiatribal populations
spellingShingle Rakesh K. Jha
Meghali Kaple
Ranjit S. Ambad
Archana Dhok
Ashsish Anjankar
The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
Journal of Pharmacy and Bioallied Sciences
g6pd deficiency
neonatal screening
sickle cell disease
thalassemia
tribal populations
title The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
title_full The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
title_fullStr The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
title_full_unstemmed The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
title_short The Neonatal Screening for Sickle Cell Disease, Thalassemia, and G6PD Deficiency in Central India
title_sort neonatal screening for sickle cell disease thalassemia and g6pd deficiency in central india
topic g6pd deficiency
neonatal screening
sickle cell disease
thalassemia
tribal populations
url https://journals.lww.com/10.4103/jpbs.jpbs_1397_24
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