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04-01-2025 | Neonatal Screening | Clinical Brief

Unveiling the Burden of Sickle Cell Anemia: A Pilot Study Validating Dried Blood Spots for Newborn Screening

Authors: Madhu Latha Karra, Emine A. Rahiman, Manasa Narahari, Aparna Varma Bhongir, Gunvanti Rathod, Shyamkrishnan R., Vijay Kumar Guduru, Surender Kagitapu, Anand Pyati, Sangeetha Sampath

Published in: Indian Journal of Pediatrics

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Abstract

This hospital-based cross-sectional study aimed to screen newborns for sickle cell anemia immediately after birth and validate dried blood spot (DBS) samples against conventional venous blood samples (CBS) for hemoglobin variant analysis by HPLC. Among 751 newborns, 2.93% were found to have sickle cell trait. Hemoglobin variants were analyzed in both DBS and CBS samples, showing good agreement with 100% sensitivity and 100% specificity. Passing Bablok regression indicated minimal proportional bias, while Bland-Altman analysis showed a bias of 0.67, but the line of equality within the 95% CI of the bias indicated acceptable minimal systematic bias. The concordance correlation coefficient was 0.91 (p < 0.0001), Pearson’s ρ (precision measure) was 0.967, and Cohen’s kappa statistics gave a weighted kappa of 0.93, confirming no significant differences between the two methods. This study supports DBS as a reliable method for universal neonatal screening for sickle cell disease, demonstrating its potential for widespread clinical use.
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Literature
1.
go back to reference Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN. Global burden of sickle cell anaemia in children under five, 2010–2050: modelling based on demographics, excess mortality, and interventions. PLoS Med. 2013;10:e1001484.CrossRefPubMedPubMedCentral Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN. Global burden of sickle cell anaemia in children under five, 2010–2050: modelling based on demographics, excess mortality, and interventions. PLoS Med. 2013;10:e1001484.CrossRefPubMedPubMedCentral
2.
6.
go back to reference Lehmann S, Delaby C, Vialaret J, Ducos J, Hirtz C. Current and future use of dried blood spot analyses in clinical chemistry. Clin Chem Lab Med. 2013;51:1897–909.CrossRefPubMed Lehmann S, Delaby C, Vialaret J, Ducos J, Hirtz C. Current and future use of dried blood spot analyses in clinical chemistry. Clin Chem Lab Med. 2013;51:1897–909.CrossRefPubMed
7.
go back to reference Suman FR, Raj RSS, Priyathersini N, Rajendran R, Rajendran R, Ramadoss U. Biological reference interval for hematological profile of umbilical cord blood: a study conducted at a tertiary care centre in south India. J Clin Diagn Res. 2015;9:SC07.PubMedPubMedCentral Suman FR, Raj RSS, Priyathersini N, Rajendran R, Rajendran R, Ramadoss U. Biological reference interval for hematological profile of umbilical cord blood: a study conducted at a tertiary care centre in south India. J Clin Diagn Res. 2015;9:SC07.PubMedPubMedCentral
8.
go back to reference Thaker P, Colah RB, Patel J, et al. 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. Front Med. 2022;8:731884.CrossRef Thaker P, Colah RB, Patel J, et al. 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. Front Med. 2022;8:731884.CrossRef
9.
go back to reference Chindima N, Nkhoma P, Sinkala M, et al. The use of dried blood spots: a potential tool for the introduction of a neonatal screening program for sickle cell anemia in Zambia. Int J Appl Basic Med Res. 2018;8:30–2.CrossRefPubMedPubMedCentral Chindima N, Nkhoma P, Sinkala M, et al. The use of dried blood spots: a potential tool for the introduction of a neonatal screening program for sickle cell anemia in Zambia. Int J Appl Basic Med Res. 2018;8:30–2.CrossRefPubMedPubMedCentral
10.
go back to reference Panigrahi S, Patra PK, Khodiar PK. Neonatal screening of sickle cell anemia: a preliminary report. Indian J Pediatr. 2012;79:747–50.CrossRefPubMed Panigrahi S, Patra PK, Khodiar PK. Neonatal screening of sickle cell anemia: a preliminary report. Indian J Pediatr. 2012;79:747–50.CrossRefPubMed
Metadata
Title
Unveiling the Burden of Sickle Cell Anemia: A Pilot Study Validating Dried Blood Spots for Newborn Screening
Authors
Madhu Latha Karra
Emine A. Rahiman
Manasa Narahari
Aparna Varma Bhongir
Gunvanti Rathod
Shyamkrishnan R.
Vijay Kumar Guduru
Surender Kagitapu
Anand Pyati
Sangeetha Sampath
Publication date
04-01-2025
Publisher
Springer India
Published in
Indian Journal of Pediatrics
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-024-05392-8

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