ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Hematology and Hematological Malignancies
Volume 13 - 2025 | doi: 10.3389/fped.2025.1650295
Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children
Provisionally accepted
- Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
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Objective:Hereditary spherocytosis (HS) is a common red blood cell membrane disease.It is currently clear that mutations in genes such as ANK1, SPTB, SPTA1, SLC4A1, EPB4.2 can cause the loss of their corresponding encoded proteins. However, there is a lack of reports in China on the association analysis between HS genotypes and clinical phenotypes, aiming to reveal whether there are differences in the corresponding clinical phenotypes of the same disease when genotypes are different.Methods: 35 children with HS who underwent complete whole exome gene sequencing in the Department of Pediatric Hematology at West China Second Hospital of Sichuan University from February 2014 to February 2024. Grouping according to different mutated genes/mutation types, and statistical analysis of blood routine and liver function indicators between different groups; Mann Whitney test analysis was used for inter group data processing, and significant differences were considered when both sides were p<0.05.Results:Compared with the SPTB group, the ANK1 group had significantly lower RBC (p=0.021) and HGB (p<0.01), but the differences in other indicators were not statistically significant (p>0.05).Conclusions:After excluding potential influencing factors such as splenectomy, the anemia symptoms in ANK1-HS patients were more severe than those in SPTB-HS patients. However, there was no statistically significant difference in indicators between HS patients with different types of gene mutations.
Keywords: pathogenic genes, Genotype and phenotype, Red blood cell structure, Hereditary spherocytosis, whole exome gene sequencing
Received: 19 Jun 2025; Accepted: 29 Jul 2025.
Copyright: © 2025 Huang, Gao and Guo. 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: Ju Gao, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
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