Article

A new case of hereditary spherocytosis with a gain-of-function SPTB mutation

2026-04-19

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Hereditary spherocytosis (HS) is a prevalent form of hereditary hemolytic anemia, primarily attributed to defects in the membrane skeleton proteins of red blood cells. The SPTB gene is one of the principal genes implicated in the pathogenesis of this condition. Nevertheless, the pathogenic mechanisms associated with numerous novel SPTB mutations remain inadeq...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 99e265a6-1433-52b6-bd5e-196196fb73e4
DOI: 10.21203/rs.3.rs-8993162/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A new case of hereditary spherocytosis with a gain-of-function SPTB mutationDOI 10.21203/rs.3.rs-8993162/v1Read

A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.Semantic proximity Read

A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.Semantic proximity Read

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.Semantic proximity Read

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].Semantic proximity Read

Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: a Case ReportSemantic proximity Read

A novel SPTB gene mutation in neonatal hereditary spherocytosis: a case report and literature reviewSemantic proximity Read

Expanding the genetic spectrum of hereditary spherocytosis: novel mutations and phenotypic heterogeneity from a 55-patient cohort.Semantic proximity Read

Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB GeneSemantic proximity Read

[Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].Semantic proximity Read

[Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].Semantic proximity Read

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.Semantic proximity Read

Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.Semantic proximity Read