A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Adolescent
Adult
Aged
Anemia, Iron-Deficiency
/ diagnosis
Anemia, Megaloblastic
/ diagnosis
Anion Exchange Protein 1, Erythrocyte
/ genetics
Ankyrins
/ genetics
Asian People
Biomarkers
/ metabolism
Case-Control Studies
Diagnosis, Differential
Eosine Yellowish-(YS)
/ analogs & derivatives
Female
Fluorescent Dyes
/ chemistry
Gene Expression
High-Throughput Nucleotide Sequencing
Humans
Male
Microscopy, Electron, Scanning
Middle Aged
Mutation
Spectrin
/ genetics
Spherocytosis, Hereditary
/ diagnosis
Splenectomy
/ methods
SLC4A1
ankyrin
hereditary spherocytosis
spectrin
splenectomy
Journal
The Kaohsiung journal of medical sciences
ISSN: 2410-8650
Titre abrégé: Kaohsiung J Med Sci
Pays: China (Republic : 1949- )
ID NLM: 100960562
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
04
11
2019
revised:
04
02
2020
accepted:
12
02
2020
pubmed:
7
3
2020
medline:
16
7
2021
entrez:
6
3
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
ANK1 protein, human
0
Anion Exchange Protein 1, Erythrocyte
0
Ankyrins
0
Biomarkers
0
Fluorescent Dyes
0
SLC4A1 protein, human
0
SPTB protein, human
0
Spectrin
12634-43-4
eosin maleimide
76296-42-9
Eosine Yellowish-(YS)
TDQ283MPCW
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
552-560Subventions
Organisme : Key projects of Nanjing Commission of Health
ID : ZKX17025
Informations de copyright
© 2020 The Authors. The Kaohsiung Journal of Medical Sciences published by John Wiley & Sons Australia on behalf of Kaohsiung Medical University.
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