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Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years

Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes in Gujarat and Madhya Pradesh where the frequency of the HbS gene is high. A total of 8,916 n...

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Autores principales: Thaker, Pallavi, Colah, Roshan B., Patel, Jignisha, Raicha, Bhavesh, Mistry, Abhishek, Mehta, Vishal, Italia, Yazdi, Desai, Shrey, Dave, Kapilkumar, Shanmugam, Rajasubramaniam, Ghosh, Kanjaksha, Mukherjee, Malay B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8885810/
https://www.ncbi.nlm.nih.gov/pubmed/35242766
http://dx.doi.org/10.3389/fmed.2021.731884
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author Thaker, Pallavi
Colah, Roshan B.
Patel, Jignisha
Raicha, Bhavesh
Mistry, Abhishek
Mehta, Vishal
Italia, Yazdi
Desai, Shrey
Dave, Kapilkumar
Shanmugam, Rajasubramaniam
Ghosh, Kanjaksha
Mukherjee, Malay B.
author_facet Thaker, Pallavi
Colah, Roshan B.
Patel, Jignisha
Raicha, Bhavesh
Mistry, Abhishek
Mehta, Vishal
Italia, Yazdi
Desai, Shrey
Dave, Kapilkumar
Shanmugam, Rajasubramaniam
Ghosh, Kanjaksha
Mukherjee, Malay B.
author_sort Thaker, Pallavi
collection PubMed
description Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes in Gujarat and Madhya Pradesh where the frequency of the HbS gene is high. A total of 8,916 newborn babies 8,411 from Gujarat and 505 from Madhya Pradesh were screened over 6 years (2010–2016) using HPLC and the diagnosis was confirmed by molecular analysis in a subset. A total of 128 babies (122 Gujarat, 6 Madhya Pradesh) were identified with sickle cell disease, of whom 87 (69 HbSS, 18 HbS-β thalassemia) from Gujarat were followed for 0.5–6.6 years. Acute painful events, severe anemia and fever with infections were the major complications and 23 babies required hospitalization. Severe to moderate clinical presentation was found in 13.8% babies with SCD whereas, 86.2% babies had a milder presentation. Presence of ameliorating factors (α-thalassemia and Xmn 1 polymorphism) did not have a discernible effect on the clinical severity. Parents of babies with SCD were educated and counseled for home care. Distribution of mobile phones to 44 families having babies with SCD was beneficial as it allowed regular contact with patients and their families. Genetic counseling to the affected families has increased the awareness and acceptance for prenatal diagnosis and 18 couples opted for prenatal diagnosis in subsequent pregnancies. SCD is not always mild among tribal groups in India. Therefore, facilities for early diagnosis and prophylactic treatment in the tertiary care centers should be made available. The difficulties in regular follow up of the babies in remote rural areas have also been highlighted.
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spelling pubmed-88858102022-03-02 Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years Thaker, Pallavi Colah, Roshan B. Patel, Jignisha Raicha, Bhavesh Mistry, Abhishek Mehta, Vishal Italia, Yazdi Desai, Shrey Dave, Kapilkumar Shanmugam, Rajasubramaniam Ghosh, Kanjaksha Mukherjee, Malay B. Front Med (Lausanne) Medicine Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes in Gujarat and Madhya Pradesh where the frequency of the HbS gene is high. A total of 8,916 newborn babies 8,411 from Gujarat and 505 from Madhya Pradesh were screened over 6 years (2010–2016) using HPLC and the diagnosis was confirmed by molecular analysis in a subset. A total of 128 babies (122 Gujarat, 6 Madhya Pradesh) were identified with sickle cell disease, of whom 87 (69 HbSS, 18 HbS-β thalassemia) from Gujarat were followed for 0.5–6.6 years. Acute painful events, severe anemia and fever with infections were the major complications and 23 babies required hospitalization. Severe to moderate clinical presentation was found in 13.8% babies with SCD whereas, 86.2% babies had a milder presentation. Presence of ameliorating factors (α-thalassemia and Xmn 1 polymorphism) did not have a discernible effect on the clinical severity. Parents of babies with SCD were educated and counseled for home care. Distribution of mobile phones to 44 families having babies with SCD was beneficial as it allowed regular contact with patients and their families. Genetic counseling to the affected families has increased the awareness and acceptance for prenatal diagnosis and 18 couples opted for prenatal diagnosis in subsequent pregnancies. SCD is not always mild among tribal groups in India. Therefore, facilities for early diagnosis and prophylactic treatment in the tertiary care centers should be made available. The difficulties in regular follow up of the babies in remote rural areas have also been highlighted. Frontiers Media S.A. 2022-02-15 /pmc/articles/PMC8885810/ /pubmed/35242766 http://dx.doi.org/10.3389/fmed.2021.731884 Text en Copyright © 2022 Thaker, Colah, Patel, Raicha, Mistry, Mehta, Italia, Desai, Dave, Shanmugam, Ghosh and Mukherjee. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Thaker, Pallavi
Colah, Roshan B.
Patel, Jignisha
Raicha, Bhavesh
Mistry, Abhishek
Mehta, Vishal
Italia, Yazdi
Desai, Shrey
Dave, Kapilkumar
Shanmugam, Rajasubramaniam
Ghosh, Kanjaksha
Mukherjee, Malay B.
Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title_full Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title_fullStr Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title_full_unstemmed Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title_short Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years
title_sort newborn screening for sickle cell disease among tribal populations in the states of gujarat and madhya pradesh in india: evaluation and outcome over 6 years
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8885810/
https://www.ncbi.nlm.nih.gov/pubmed/35242766
http://dx.doi.org/10.3389/fmed.2021.731884
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