Jiang Shouliang, Lu Ruifeng, Tang Jun
Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Front Pediatr. 2024 Oct 22;12:1485318. doi: 10.3389/fped.2024.1485318. eCollection 2024.
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.
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.
遗传性椭圆形红细胞增多症（HE）是一组临床和遗传异质性的红细胞膜病，由红细胞（RBC）膜与细胞骨架蛋白之间的横向连接缺陷引起，这会影响机械稳定性和变形性，从而缩短红细胞寿命。HE的主要缺陷是由于红细胞细胞骨架蛋白功能障碍或缺乏。
本研究报告了一例足月儿出生后一天内发生严重溶血的病例。采用高通量测序对该患儿的致病基因变异进行表征，并研究所鉴定变异与其相应表型特征之间的相关性。
HE由单等位基因突变引起，这解释了患者中观察到的表型异质性。此外，使用高通量测序进行分子分析能够诊断具有高度可变异质性的疾病。HE在新生儿期也可表现为严重溶血。
