Article
Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.
Scientific reports - 9 Nov 2024
Panarach Charuwan, Netsawang Chaiwat, Nuchprayoon Issarang, Leecharoenkiat Kamonlak
Abstract excerpt
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 mutations remain limited. This study identified three novel heterozygous mutations in 3 HS patients: c.1994 C > A in ANK1,...
Topics
- Humans
- Spherocytosis, Hereditary
- Ankyrins
- Mutation
- Spectrin
- Male
- Female
- Exome Sequencing
- Codon, Nonsense
- Child
- Adult