ArticleBlood cells, molecules & diseases2016
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Article in Blood cells, molecules & diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 82 citations in OpenAlex.
- Screening of hereditary elliptocytosis caused byBMJ paediatrics open · 2026Article
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- Pathophysiological Associations and Measurement Techniques of Red Blood Cell Deformability.Biosensors · 2025Review
- Hereditary elliptocytosis in a child with an autosomal recessiveJournal of medicine and life · 2025Article
- Frameshift Mutation in the EPB41 Gene with Hereditary Elliptocytosis.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Cytoskeletal Protein 4.1R in Health and Diseases.Biomolecules · 2024Review
- Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.Annals of hematology · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.Annals of hematology · 2023Article
- [Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Review
- Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis.Hematology reports · 2022Article
- Physiology and Proteomic Basis of Lung Adaptation to High-Altitude Hypoxia in Tibetan Sheep.Animals : an open access journal from MDPI · 2022Article
- Reticulocyte Maturation.Membranes · 2022Review
- Diagnosis and clinical management of red cell membrane disorders.Hematology. American Society of Hematology. Education Program · 2021Article
- Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.EJHaem · 2021Article
- Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.The Journal of clinical investigation · 2021Article
- Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.Journal of clinical laboratory analysis · 2021Article
- Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.Frontiers in physiology · 2021Article
- Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a new variant in the band 3 protein.BMJ case reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. The clinical diagnosis of HE and HPP relies on identifying characteristic RBC morphology on peripheral blood smear and specific membrane biomechanical properties using osmotic gradient ektacytometry. However, this phenotypic diagnosis may not be readily available in patients requiring frequent transfusions, and does not predict disease course or severity. Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected HE or HPP and correlated the identified mutations with the clinical phenotype and ektacytometry profile. In addition to identifying three novel mutations, gene sequencing confirmed and, when the RBC morphology was not evaluable, identified the diagnosis. Moreover, genotypic differences justified the phenotypic differences within families with HE/HPP.
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