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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1487121

Genetic Screening Strategy for Children with Hereditary Spherocytosis in Jiangxi Province of China

Provisionally accepted
Chongjun Wu Chongjun Wu *Zhongjin Xu Zhongjin Xu Qian Wan Qian Wan Feng Chen Feng Chen Yao Ye Yao Ye Hong Wang Hong Wang
  • Jiangxi Provincial Children's Hospital, Nanchang, China

The final, formatted version of the article will be published soon.

    Abstract: Objective: This study aims to provide a comprehensive summary of the clinical phenotypic characteristics of children with anemia of unknown etiology, particularly focusing on the early detection of hereditary spherocytosis (HS) and exploring genetic screening strategies for this condition in childhood. Methods: The study included children with anemia whose underlying cause could not be definitively identified through routine clinical diagnosis. Clinical data was collected and genetic diagnosis of HS was confirmed using next-generation sequencing. Statistical analysis was conducted to evaluate the clinical characteristics of children with HS. Results: A total of thirty children with unexplained anemia were included in the study, resulting in a gene detection diagnostic rate of 80%. This included the identification of five non-HS-related congenital anemia genes (16.66%, 5/30) and nineteen cases of hereditary spherocytosis (HS). Upon initial diagnosis, the clinical features of HS were not significantly distinct compared to other forms of anemia. Conclusion: In Jiangxi, China, our strategy of genetic screening for these children is feasible after excluding the common causes of anemia, such as nutritional anemia, G-6-PD deficiency, thalassemia, autoimmune hemolytic anemia, and myelopoietic abnormalities in children. This is an exploration to establish a genetic screening strategy for children with HS, and more detailed genetic screening strategies need to be further studied and explored. Next-generation sequencing remains the main method for the diagnosis and differential diagnosis of HS.

    Keywords: Genetic Screening Strategy, Children, Hereditary spherocytosis, Jiangxi Province, China

    Received: 27 Aug 2024; Accepted: 30 Dec 2024.

    Copyright: © 2024 Wu, Xu, Wan, Chen, Ye and Wang. 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) or licensor 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.

    * Correspondence: Chongjun Wu, Jiangxi Provincial Children's Hospital, Nanchang, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.