Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.
Hemolytic anemia
Hereditary spherocytosis
Pedigree analysis
Target region capture high-throughput sequencing technology
Journal
Journal of hematopathology
ISSN: 1865-5785
Titre abrégé: J Hematop
Pays: Germany
ID NLM: 101491976
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
21
09
2022
accepted:
10
04
2023
medline:
4
1
2024
pubmed:
4
1
2024
entrez:
4
1
2024
Statut:
ppublish
Résumé
Hereditary spherocytosis (HS) is a common, hereditary hemolytic anemia (HHA) that is attributed to the disturbance of five erythrocyte membrane proteins. HS is also common in Guangxi, China. Target region capture high-throughput sequencing technology was used to analyze genetic mutations found in HS patients. Pedigree analysis was also performed, in some cases, to provide an optimized approach for the etiological diagnosis of complex, hereditary hemolytic anemia. Blood samples from the probands and their families were assessed by laboratory tests, target region capture high-throughput sequencing technology, and Sanger sequencing. We detected 79 HS patients from 37 unrelated families. The mutations observed in these patients were found mainly in four HS-related genes. These included SLC4A1, which was mutated in 31.65% of patients (25/79), SPTA1 (30.78% (24/79)), EPB42 (6.33% (5/79)), and SPTB (5.06% (4/79)). Composite genotype was observed in 26.58% (21/79) of patients and included mutations in two or more HS-related genes or mutations in HS-related genes combined with thalassemia or G6PD deficiency. No significant differences in clinical symptoms were found among patients of various genotypes except total bilirubin. Mean reticulocyte volume (MRV) and mean sphered cell volume (MSCV) of the composite genotype were significantly different from other groups. A total of 28 mutation types were found in HS-related genes. Using high-throughput sequencing technology, we also found some cases that had been misdiagnosed. MRV and MSCV are more significant in compound mutations as sensitive determinants of HS. High-throughput sequencing technology can be used to provide a more effective etiological diagnostic method for HS, with high efficiency and specificity.
Identifiants
pubmed: 38175446
doi: 10.1007/s12308-023-00545-8
pii: 10.1007/s12308-023-00545-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
95-101Subventions
Organisme : National Natural Science Foundation of China
ID : 81360263
Organisme : Guangxi Zhuang Region Health Department
ID : Z20191010
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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