ReviewHaematologica2016
New insights on hereditary erythrocyte membrane defects.
Review in Haematologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 196 citations in OpenAlex.
- A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.BMC medical genomics · 2022Pooled it
- Recurrent Hemolytic Anemia in an Infant with Hereditary Elliptocytosis at a Nigerian Hospital.Annals of African medicine · 2026Article
- Hereditary Elliptocytosis Identified During the Evaluation of Splenomegaly: A Case Report.Cureus · 2026Article
- Article
- Parvovirus B19-induced aplastic crises in children with hereditary spherocytosis in the Czech Republic: multicentre retrospective study.BMC infectious diseases · 2026Article
- Expanding the genetic spectrum of hereditary spherocytosis: novel mutations and phenotypic heterogeneity from a 55-patient cohort.Annals of hematology · 2026Article
- Red Blood Cells in Normal and Pathological States: Redox Reactions of Hemoglobin.Molecules (Basel, Switzerland) · 2026Review
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.International journal of molecular sciences · 2026Review
- [Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Article
- Hereditary elliptocytosis in a child with an autosomal recessiveJournal of medicine and life · 2025Article
- Subcellular Mechanical Imaging of Erythrocytes with Optically Correlated Scanning Ion Conductance Microscopy.ACS measurement science au · 2025Article
- Neonatal Hemolytic Jaundice: Causes, Diagnostic Approach, and Management.Children (Basel, Switzerland) · 2025Review
- Article
- Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.Frontiers in pediatrics · 2025Article
- RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.American journal of hematology · 2025Article
- Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in theFrontiers in genetics · 2025Article
- Novel compound heterozygousFrontiers in oncology · 2025Article
- Article
- Establishing the Approach to the Diagnosis of Hemolytic Anemia in the Genetic Era: A Case Series.Cureus · 2024Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
After the first proposed model of the red blood cell membrane skeleton 36 years ago, several additional proteins have been discovered during the intervening years, and their relationship with the pathogenesis of the related disorders have been somewhat defined. The knowledge of erythrocyte membrane structure is important because it represents the model for spectrin-based membrane skeletons in all cells and because defects in its structure underlie multiple hemolytic anemias. This review summarizes the main features of erythrocyte membrane disorders, dividing them into structural and altered permeability defects, focusing particularly on the most recent advances. New proteins involved in alterations of the red blood cell membrane permeability were recently described. The mechanoreceptor PIEZO1 is the largest ion channel identified to date, the fundamental regulator of erythrocyte volume homeostasis. Missense, gain-of-function mutations in the PIEZO1 gene have been identified in several families as causative of dehydrated hereditary stomatocytosis or xerocytosis. Similarly, the KCNN4 gene, codifying the so called Gardos channel, has been recently identified as a second causative gene of hereditary xerocytosis. Finally, ABCB6 missense mutations were identified in different pedigrees of familial pseudohyperkalemia. New genomic technologies have improved the quality and reduced the time of diagnosis of these diseases. Moreover, they are essential for the identification of the new causative genes. However, many questions remain to solve, and are currently objects of intensive studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.