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CASE REPORT article

Front. Pediatr.
Sec. Neonatology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1485318

A rare case report of hemolysis in a newborn: hereditary elliptocytosis

Provisionally accepted
Shou-Liang Jiang Shou-Liang Jiang Rui-Feng Lu Rui-Feng Lu *Jun Tang Jun Tang
  • West China Second University Hospital, Sichuan University, Chengdu, China

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

    Introduction: Hereditary Elliptocytosis (HE) comprises clinically and genetically heterogeneous red cell membranopathies resulting from defects in the horizontal linkage between red blood cell (RBC) membrane and cytoskeletal proteins, which affect mechanical stability and deformability, thereby reducing RBC lifespan. The principal defect in HE is due to dysfunction or deficiency of RBC cytoskeletal proteins.Case Description: This study reported a case of severe hemolysis occurring within one day after birth in a term newborn. High-throughput sequencing was used to characterize the pathogenic gene variation in this child and to study the correlation between the identified variation and its corresponding phenotypic characteristics.HE is caused by monoallelic mutations, which justify the phenotypic heterogeneity observed in patients. Furthermore, molecular analysis using high-throughput sequencing enables diagnosis in disorders with highly variable heterogeneity. HE can also present with severe hemolysis during the neonatal period.

    Keywords: Hereditary Elliptocytoses, SPTA1, neonate, Hemolysis, haemolytic jaundice

    Received: 23 Aug 2024; Accepted: 08 Oct 2024.

    Copyright: © 2024 Jiang, Lu and Tang. 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: Rui-Feng Lu, West China Second University Hospital, Sichuan University, Chengdu, 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.