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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Mar 9, 2025; 14(1): 97537
Published online Mar 9, 2025. doi: 10.5409/wjcp.v14.i1.97537
Published online Mar 9, 2025. doi: 10.5409/wjcp.v14.i1.97537
Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence
Nathalia Noyma Sampaio Magalhães, Department of Pediatrics, Faculdade de Ciências Médicas e da Saúde de Juiz de Fora, Juiz de Fora 36033-003, Brazil
Lucas Barra Mathiasi, Department of Internal Medicine, Rede D'Or Rio de Janeiro, Rio de Janeiro 22270-010, Brazil
Daniela de Oliveira Werneck Rodrigues, Department of Hematology, Fundação Hemominas, Juiz de Fora 36010-560, MG, Brazil
Daniela de Oliveira Werneck Rodrigues, Department of Internal Medicine, Universidade Presidente Antônio Carlos - Faculdade de Medicina Juiz de Fora, Juiz de Fora 36010-560, Minas Gerais, Brazil
Co-first authors: Nathalia Noyma Sampaio Magalhães and Lucas Barra Mathiasi.
Author contributions: Magalhães NNS and Mathiasi LB were responsible for conception and design of the study, acquisition, analysis and interpretation of the data, drafting of the article or revising it critically for important intellectual content, and providing final approval of the version to be submitted; The research project was conducted under the supervision of de Werneck Rodrigues DO, who was also responsible for the final approval of the manuscript.
Institutional review board statement: The present study was registered and approved by the Fundação Hemominas Ethics Committee and Plataforma Brasil under the respective numbers: Ethics committee opinion number (5.587.330) and Certificate of Presentation of Ethical Review ( CAAE) number 17514619.6.2003.5118).
Informed consent statement: Informed consent statement was obtained from the patient’s family.
Conflict-of-interest statement: All authors declare that there are no conflicts of interest.
Data sharing statement: The authors declare that the database that originated the article is available in an open repository Núcleo de Ações e Pesquisas em Apoio Diagnóstico da Universidade Federal de Minas Gerais and Fundação Hemominas (prontuário eletrônico) or upon request from the corresponding author.
STROBE statement: The authors have read the STROBE Statement—a checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—a checklist of items.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Daniela de Oliveira Werneck Rodrigues, MD, MSc, PhD, Assistant Pro
Received: June 1, 2024
Revised: September 10, 2024
Accepted: September 30, 2024
Published online: March 9, 2025
Processing time: 201 Days and 18.1 Hours
Revised: September 10, 2024
Accepted: September 30, 2024
Published online: March 9, 2025
Processing time: 201 Days and 18.1 Hours
Core Tip
Core Tip: The key finding of this study was that the early identification and diagnosis of two severe genetic diseases determined by neonatal screening can improve life expectancy and quality of life. The co-occurrence of sickle cell anemia and cystic fibrosis is rare. To the best of our knowledge, only 5 cases are currently reported in the literature. This manuscript contributes to the scientific community by adding another case of the co-occurrence of serious genetic diseases to the body of knowledge. When recognizing the existence of both pathologies in an association, there is a broader view of patients with these disorders, improving their quality of life and reducing morbidity and mortality.