Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis.

Annals of human genetics - 1 Nov 2025

Li Lin-Lin, Ali Sadik, Bin Qiong

Abstract excerpt

BACKGROUND: Hereditary spherocytosis (HS) is a chronic non-immune hemolytic anemia caused by congenital defects in the erythrocyte membrane. Gene variations can lead to HS, and the SPTB gene variation is one of them. However, HS with cholangiolithiasis and extremely intrahepatic cholestasis had been rarely discussed as a phenotype caused by SPTB gene variation, and the pathogenic mechanism of this gene variation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholestasis, Intrahepatic
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Spectrin

Share to Spherocytosis, Hereditary

Source

Identifiers

PMID: 40551579
DOI: 10.1111/ahg.70006

Genes

SPTB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis.PMID 40551579Read ↗

Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the LiteratureSemantic proximity Read ↗

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

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

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.Semantic proximity Read ↗

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

De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.Semantic proximity Read ↗

[Clinical and genotypic analysis of hereditary spherocytosis combined with cholestasis among pediatric patients].Semantic proximity Read ↗

In-silico analysis of mutations in ANK1, SPTB, SPTA1, SLC4A1, and EPB4.2 genes responsible for Hereditary SpherocytosisSemantic proximity Read ↗

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Semantic proximity Read ↗

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.Semantic proximity Read ↗

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

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: First South Asian studySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.