ArticleThe Kaohsiung journal of medical sciences2020
A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Article in The Kaohsiung journal of medical sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.Frontiers in pediatrics · 2025Article
- Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.BMJ case reports · 2024Article
- Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.Frontiers in pediatrics · 2024Article
- Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.Journal of hematopathology · 2023Article
- Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant ofFrontiers in genetics · 2023Article
- Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report.Experimental and therapeutic medicine · 2023Article
- The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.Journal of human genetics · 2021Article
- Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.BMC pediatrics · 2021Article
- A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.The Kaohsiung journal of medical sciences · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the diagnostic workflow for mild and moderate HS in Chinese individuals, using data from 20 adults, 8 of whom presented a familial history for HS. We used scanning electron microscopy (SEM) to diagnose HS. We observed reduced eosin maleimide fluorescence activity (5.50 mean channel fluorescence (MCF) units) in the 10 cases of HS, which differed significantly when compared with 10 normal adults (15.50 units), iron deficiency anemia (15.50 MCF units), and megaloblastic anemia (12.00 MCF units) values (P < .05). Next generation sequencing results revealed that 9 out of 10 patients were found to have mutations in the spectrin alpha chain (SPTB), anchor protein (ANK1), and SLC4A1 genes. These mutations were not reported in the Human Gene Mutation Database (HGMD), 1000 human genome, ExAC, and dbSNP147 databases. Splenectomy proved to be beneficial in alleviating HS symptoms in 10 cases. It was found that for the diagnosis of HS, SEM and next generation gene sequencing method proved to be more ideal than red blood cell membrane protein analysis using sodium dodecyl sulfate polyacrylamide gel electrophoresis and western blotting.
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