ArticleHematology. American Society of Hematology. Education Program2021
Diagnosis and clinical management of red cell membrane disorders.
Article in Hematology. American Society of Hematology. Education Program, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Decoding the Ektacytometric Landscape of Hereditary Spherocytosis: Insights from 204 Cases.Diagnostics (Basel, Switzerland) · 2026Article
- Parvovirus B19-induced aplastic crises in children with hereditary spherocytosis in the Czech Republic: multicentre retrospective study.BMC infectious diseases · 2026Article
- Hereditary red cell defects as an underrecognized cause of neonatal jaundice.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Choice of lipid supplementation for in vitro erythroid cell culture impacts reticulocyte yield and characteristics.Scientific reports · 2026Article
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Clinical characteristics, genotype-phenotype correlation, and prognostic follow-up of 48 Chinese children with hereditary spherocytosis.Frontiers in medicine · 2026Article
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- Neonatal Hemolytic Jaundice: Causes, Diagnostic Approach, and Management.Children (Basel, Switzerland) · 2025Review
- Drug-induced liver injury from Deferasirox in a pediatric patient with hereditary spherocytosis: A case report.JPGN reports · 2025Article
- Crosstalk: Biochemical Signatures and Clinical Implications in Rare Hereditary Hemolytic Anemias (Hereditary Spherocytosis).Current pharmaceutical design · 2025Article
- An overview of hereditary spherocytosis and the curative effects of splenectomy.Frontiers in physiology · 2025Review
- Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.International medical case reports journal · 2025Article
- Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Scientific reports · 2024Article
- Transcript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.EMBO reports · 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
- De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.BMC pediatrics · 2023Article
- Intraoperative Cell-Saver Caused More Autologous Salvage Hemolysis in a Hereditary Spherocytosis Patient Than in a Normal Erythrocyte Patient.Frontiers in physiology · 2022Article
- Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.Frontiers in physiology · 2022Article
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Authors and funding
1 author at 1 institution in 1 country.
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Abstract
Heterogeneous red blood cell (RBC) membrane disorders and hydration defects often present with the common clinical findings of hemolytic anemia, but they may require substantially different management, based on their pathophysiology. An accurate and timely diagnosis is essential to avoid inappropriate interventions and prevent complications. Advances in genetic testing availability within the last decade, combined with extensive foundational knowledge on RBC membrane structure and function, now facilitate the correct diagnosis in patients with a variety of hereditary hemolytic anemias (HHAs). Studies in patient cohorts with well-defined genetic diagnoses have revealed complications such as iron overload in hereditary xerocytosis, which is amenable to monitoring, prevention, and treatment, and demonstrated that splenectomy is not always an effective or safe treatment for any patient with HHA. However, a multitude of variants of unknown clinical significance have been discovered by genetic evaluation, requiring interpretation by thorough phenotypic assessment in clinical and/or research laboratories. Here we discuss genotype-phenotype correlations and corresponding clinical management in patients with RBC membranopathies and propose an algorithm for the laboratory workup of patients presenting with symptoms and signs of hemolytic anemia, with a clinical case that exemplifies such a workup.
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