| Autor: |
Chongjun Wu, Yixin Yan, Ting Xiong, Wen Jiang, Jing Xu, Yanfei Rao, Jianyun Ao, Chun Xu, Xuehong Li, Longwang Qi, Wenhong Zheng, Wenjin Li, Zhongjin Xu, Yu Yang, Zhenjiang Li |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-024-03290-y |
| Popis: |
Abstract Objective This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype–phenotype correlations in Chinese patients with hereditary spherocytosis (HS). Methods Retrospective analysis of clinical data and molecular genetic characteristics was conducted on patients diagnosed with HS at Jiangxi Provincial Children's Hospital, the Second Affiliated Hospital of Nanchang University, Pingxiang People's Hospital and The Third People's Hospital of Jingdezhen between November 2017 and June 2023. Statistical analyses were performed to compare and analyze the red blood cell (RBC), hemoglobin (HB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) data between and within groups based on different mutations and age groups ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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