Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients

Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients

Abstract Hereditary spherocytosis (HS) is the most prevalent form of congenital hemolytic anemia, being caused by genetic mutations in genes encoding red blood cell cytoskeletal proteins. Mutations in the ANK1 and SPTB genes are the most common causes of HS.; however, pathogenicity analyses of these...

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Bibliographic Details
Main Authors: Charuwan Panarach, Chaiwat Netsawang, Issarang Nuchprayoon, Kamonlak Leecharoenkiat
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
SPTB
ANK1
Hereditary spherocytosis
DNA sequencing
Mutation
NGS
Online Access:https://doi.org/10.1038/s41598-024-78622-w

Internet

https://doi.org/10.1038/s41598-024-78622-w

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