Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights

Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights

BackgroundHereditary spherocytosis (HS) is a group of genetically heterogeneous hereditary hemolytic disorders characterized by anemia, splenomegaly, jaundice, reticulocytosis, and spherical red blood cells on peripheral blood smears. Mutations in key genes, including SPTB, ANK1, SLC4A1, SPTA1, and...

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Main Authors: Xiaobing Li, Tingqiang Zhang, Xuemei Li, Li Wang, Qian Li, Qianqian Liu, Chengyin He, Li Zhang, Yongsheng Liu, Junling Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
hereditary spherocytosis
novel SPTB gene
mutation
hemolytic anemia
splenomegaly
jaundice
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1522204/full
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