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

Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.

Genetic testing and molecular biomarkers - 1 Feb 2026

Espinoza-Mata Laura Lucía, Herrera-Tirado Isis Mariela, Borrayo-López Francisco Javier, Ibarra-Cortés Bertha, Perea-Díaz Francisco Javier

Abstract excerpt

Red blood cell (RBC) membranopathies, caused by genetic alterations in membrane and cytoskeletal proteins, lead to significant variability in clinical presentation. This study analyzes 23 single nucleotide variants across nine genes (ADD1, ADD2, ANK1, EPB41, PIEZO1, SLC4A1, SPTA1, SPTB, and TAF3) in 225 Mexican patients with suspected RBC membranopathies and their effects on hematological parameters. Key...

Read the complete abstract on PubMed

Topics

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

Share to Erythrocyte Count
Share to Erythrocyte Indices

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythrocyte Membrane

Share to Erythrocytes

Share to Hematologic Diseases

Share to Infant

Share to Membrane Proteins

Share to Mexico

Source

Identifiers

PMID: 41631466
DOI: 10.1177/19450265261417994

Genes

SPTA1
ADD1
ADD2
PIEZO1
TAF3
ANK1
EPB41
SLC4A1
SPTB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.PMID 41631466Read ↗

Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.Semantic proximity Read ↗

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.Semantic proximity Read ↗

Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.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 ↗

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

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.Semantic proximity Read ↗

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.Semantic proximity Read ↗

Hereditary thrombocytopenias: a growing list of disordersSemantic proximity Read ↗

A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.Semantic proximity Read ↗

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of ChinaSemantic proximity Read ↗

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experienceSemantic proximity Read ↗

Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.Semantic proximity Read ↗

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