Wu Chongjun, Xu Zhongjin, Wan Qian, Chen Feng, Ye Yao, Wang Hong
Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China.
Department of Hematology, The Affiliated Children's Hospital of Nanchang Medical College, Nanchang, China.
Front Pediatr. 2025 Jan 17;12:1487121. doi: 10.3389/fped.2024.1487121. eCollection 2024.
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.
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.
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.
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.
本研究旨在全面总结病因不明的儿童贫血的临床表型特征，尤其着重于遗传性球形红细胞增多症（HS）的早期检测，并探索儿童期该病的基因筛查策略。
该研究纳入了通过常规临床诊断无法明确病因的贫血儿童。收集临床数据，并使用下一代测序技术确诊HS的基因诊断。进行统计分析以评估HS患儿的临床特征。
本研究共纳入30例不明原因贫血患儿，基因检测诊断率为80%。其中包括鉴定出5个非HS相关的先天性贫血基因（16.66%，5/30）和19例遗传性球形红细胞增多症（HS）。初诊时，HS的临床特征与其他形式的贫血相比无明显差异。
在中国江西，排除儿童营养性贫血、G-6-PD缺乏症、地中海贫血、自身免疫性溶血性贫血和骨髓造血异常等贫血常见病因后，对这些患儿进行基因筛查的策略是可行的。这是建立HS患儿基因筛查策略的一次探索，更详细的基因筛查策略有待进一步研究和探索。下一代测序仍然是HS诊断和鉴别诊断的主要方法。
