ArticleFrontiers in physiology2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Article in Frontiers in physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis.Clinical and experimental medicine · 2025Pooled it
- Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Annals of hematology · 2026Article
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due toInternational journal of molecular sciences · 2025Article
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- New Cases and Mutations inInternational journal of molecular sciences · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations inJournal of clinical medicine · 2023Article
- Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.Diagnostics (Basel, Switzerland) · 2023Article
- Editorial: Images from red cells, Volume II.Frontiers in physiology · 2023Article
- Anemia in the pediatric patient.Blood · 2022Article
- Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.Frontiers in physiology · 2022Article
- Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.EJHaem · 2021Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly understood, and easy-to-apply tools for diagnosis, clinical management, and patient stratification are still lacking. We report the 3-years monocentric experience with a 43 genes targeted Next Generation Sequencing (t-NGS) panel in diagnosis of CHAs; 122 patients from 105 unrelated families were investigated and the results compared with conventional laboratory pathway. Patients were divided in two groups: 1) cases diagnosed with hematologic investigations to be confirmed at molecular level, and 2) patients with unexplained anemia after extensive hematologic investigation. The overall sensitivity of t-NGS was 74 and 35% for families of groups 1 and 2, respectively. Inside this cohort of patients we identified 26 new pathogenic variants confirmed by functional evidence. The implementation of laboratory work-up with t-NGS increased the number of diagnoses in cases with unexplained anemia; cytoskeleton defects are well detected by conventional tools, deserving t-NGS to atypical cases; the diagnosis of Gardos channelopathy, some enzyme deficiencies, familial siterosterolemia, X-linked defects in females and other rare and ultra-rare diseases definitely benefits of t-NGS approaches.
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