Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India

Background: : Genetic disorders, including sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency, pose significant health challenges in central India, especially among tribal populations. Comprehensive neonatal screening is crucial for early diagnosis and ma...

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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
Subjects:
Online Access:https://journals.lww.com/10.4103/jpbs.jpbs_1398_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: : Genetic disorders, including sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency, pose significant health challenges in central India, especially among tribal populations. Comprehensive neonatal screening is crucial for early diagnosis and management. Aim and Objective: This study aims to evaluate the prevalence of SCD, thalassemia, and G6PD deficiency in newborns from tribal regions of central India and assess the impact of comprehensive neonatal screening programs. Materials and Methods: A total of 382 newborns were screened for SCD and thalassemia using high-performance liquid chromatography (HPLC) and for G6PD deficiency using a colorimetric assay. Demographic data were collected, and statistical analyses were performed. Results: The screening identified 28 cases of Sickle cell disease (SCD) (7.3%), 35 cases of thalassemia (9.1%), and 34 cases of G6PD deficiency (8.9%). The study found a significant relationship between maternal education and the prevalence of genetic disorders. Conclusion: The findings highlight the importance of implementing comprehensive neonatal screening programs in tribal populations to improve early detection and management of genetic disorders.
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institution Kabale University
issn 0976-4879
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language English
publishDate 2024-12-01
publisher Wolters Kluwer Medknow Publications
record_format Article
series Journal of Pharmacy and Bioallied Sciences
spelling doaj-art-c6b0c5b2107e4c09aeae5d432796f4d22025-01-13T10:55:53ZengWolters Kluwer Medknow PublicationsJournal of Pharmacy and Bioallied Sciences0976-48790975-74062024-12-0116Suppl 4S4021S402510.4103/jpbs.jpbs_1398_24Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central IndiaRakesh K. JhaMeghali KapleRanjit S. AmbadArchana DhokAshsish AnjankarBackground: : Genetic disorders, including sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency, pose significant health challenges in central India, especially among tribal populations. Comprehensive neonatal screening is crucial for early diagnosis and management. Aim and Objective: This study aims to evaluate the prevalence of SCD, thalassemia, and G6PD deficiency in newborns from tribal regions of central India and assess the impact of comprehensive neonatal screening programs. Materials and Methods: A total of 382 newborns were screened for SCD and thalassemia using high-performance liquid chromatography (HPLC) and for G6PD deficiency using a colorimetric assay. Demographic data were collected, and statistical analyses were performed. Results: The screening identified 28 cases of Sickle cell disease (SCD) (7.3%), 35 cases of thalassemia (9.1%), and 34 cases of G6PD deficiency (8.9%). The study found a significant relationship between maternal education and the prevalence of genetic disorders. Conclusion: The findings highlight the importance of implementing comprehensive neonatal screening programs in tribal populations to improve early detection and management of genetic disorders.https://journals.lww.com/10.4103/jpbs.jpbs_1398_24comprehensive neonatal screeningg6pd deficiencysickle cell diseasethalassemiatribal populations
spellingShingle Rakesh K. Jha
Meghali Kaple
Ranjit S. Ambad
Archana Dhok
Ashsish Anjankar
Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
Journal of Pharmacy and Bioallied Sciences
comprehensive neonatal screening
g6pd deficiency
sickle cell disease
thalassemia
tribal populations
title Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
title_full Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
title_fullStr Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
title_full_unstemmed Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
title_short Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
title_sort comprehensive neonatal screening for genetic disorders in tribal populations of central india
topic comprehensive neonatal screening
g6pd deficiency
sickle cell disease
thalassemia
tribal populations
url https://journals.lww.com/10.4103/jpbs.jpbs_1398_24
work_keys_str_mv AT rakeshkjha comprehensiveneonatalscreeningforgeneticdisordersintribalpopulationsofcentralindia
AT meghalikaple comprehensiveneonatalscreeningforgeneticdisordersintribalpopulationsofcentralindia
AT ranjitsambad comprehensiveneonatalscreeningforgeneticdisordersintribalpopulationsofcentralindia
AT archanadhok comprehensiveneonatalscreeningforgeneticdisordersintribalpopulationsofcentralindia
AT ashsishanjankar comprehensiveneonatalscreeningforgeneticdisordersintribalpopulationsofcentralindia