ArticleFrontiers in genetics2021
Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.BMC medical genomics · 2022Pooled it
- Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Molecular genetics & genomic medicine · 2026Article
- A novelFrontiers in pediatrics · 2026Article
- Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.Frontiers in pediatrics · 2025Article
- Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.Orphanet journal of rare diseases · 2024Article
- Identification of a novelFrontiers in genetics · 2024Article
- Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.Frontiers in pediatrics · 2024Article
- Genotype-degree of hemolysis correlation in hereditary spherocytosis.BMC genomics · 2023Article
- Case report: Variants in theFrontiers in genetics · 2023Article
- Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of theFrontiers in genetics · 2023Article
- Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.Experimental and therapeutic medicine · 2022Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.
methodsThe clinical data and gene test results of children with HS were collected. All patients were diagnosed by gene test results, and the laboratory results were obtained before splenectomy. The data of red blood cell (RBC), hemoglobin (HB), mean red blood cell volume (MCV), mean red blood cell hemoglobin (MCH), mean red blood cell hemoglobin concentration (MCHC), and hematocrit (HCT) were statistically analyzed according to different mutation genes. Statistical methods for comparison between groups Mann-Whitney test analysis, two-terminal
resultsA total of 15 children were enrolled in our hospital, and 14 variants were found (nine variants have not been reported before), including 10 ANK1 mutations (seven ANK1 truncated mutations) and five SPTB mutations. Patients with ANK1 mutations had more severe anemia than those with SPTB mutations (significantly lower RBC, HB, MCHC, and HCT).
conclusionThis is one of the few studies on the genetic and clinical characteristics of children with HS in China. This study identified the unique genetic and clinical characteristics of Chinese children with HS and analyzed the pathogenic genotype-phenotypic association. The results confirmed that the anemia degree of HS patients caused by ANK1 was more serious than that of patients with SPTB deficiency. However, further study of the correlation between genotype and phenotype requires a larger sample size.
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