ArticleGenes2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Article
- Article
- Expanding the genetic spectrum of hereditary spherocytosis: novel mutations and phenotypic heterogeneity from a 55-patient cohort.Annals of hematology · 2026Article
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.International journal of molecular sciences · 2026Review
- Expanding the genetic landscape ofFrontiers in genetics · 2026Article
- Additive effect of multiple genetic variants inHemaSphere · 2026Article
- RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.American journal of hematology · 2025Article
- Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.Annals of hematology · 2024Review
- DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.Orphanet journal of rare diseases · 2024Article
- Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.Frontiers in genetics · 2024Article
- Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.Frontiers in pediatrics · 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
- Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.Blood advances · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.Molecular genetics and genomics : MGG · 2023Article
- Whole genome sequencing revealed genetic diversity, population structure, and selective signature of Panou Tibetan sheep.BMC genomics · 2023Article
- Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- Hereditary anemia caused by multilocus inheritance ofHaematologica · 2022Article
- SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary erythrocytes disorders include a large group of conditions with heterogeneous molecular bases and phenotypes. We analyzed here a case series of 155 consecutive patients with clinical suspicion of hereditary erythrocyte defects referred to the Medical Genetics Unit from 2018 to 2020. All of the cases followed a diagnostic workflow based on a targeted next-generation sequencing panel of 86 genes causative of hereditary red blood cell defects. We obtained an overall diagnostic yield of 84% of the tested patients. Monogenic inheritance was seen for 69% (107/155), and multi-locus inheritance for 15% (23/155).
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