ReviewFrontiers in physiology2020
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.
Review in Frontiers in physiology, 2020. 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, 47 citations in OpenAlex.
- Additive effect of multiple genetic variants inHemaSphere · 2026Article
- A blue blood toddler- a case report of methemoglobinemia and literature review.Italian journal of pediatrics · 2025Review
- Postoperative anemia: prevention without cure is not enough.Blood transfusion = Trasfusione del sangue · 2025Article
- Molecular identification and phenotypic study of a novelFrontiers in medicine · 2025Article
- Editorial: Anemia in children: from nutritional deficits to genetic disorders.Frontiers in pediatrics · 2025Article
- 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
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis.JCI insight · 2023Article
- One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in theHaematologica · 2023Article
- Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.Scientific reports · 2023Article
- Hereditary anemia caused by multilocus inheritance ofHaematologica · 2022Article
- [Differential diagnosis of reactive cytopenias].Pathologie (Heidelberg, Germany) · 2022Review
- Early Development of Ubiquitous Acanthocytosis and Extravascular Hemolysis in Lung Cancer Patients Receiving Alectinib.Cancers · 2022Article
- NovelClinical case reports · 2022Article
- Recommendations for diagnosis and treatment of methemoglobinemia.American journal of hematology · 2021Review
- Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.EJHaem · 2021Article
- Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues.Diagnostics (Basel, Switzerland) · 2021Review
- Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.BMC medical genomics · 2021Article
- The EHA Research Roadmap: Anemias.HemaSphere · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hereditary anemias are a relatively heterogeneous set of disorders that can show wide clinical and genetic heterogeneity, which often hampers correct clinical diagnosis. The classical diagnostic workflow for these conditions generally used to start with analysis of the family and personal histories, followed by biochemical and morphological evaluations, and ending with genetic testing. However, the diagnostic framework has changed more recently, and genetic testing is now a suitable approach for differential diagnosis of these patients. There are several approaches to this genetic testing, the choice of which depends on phenotyping, genetic heterogeneity, and gene size. For patients who show complete phenotyping, single-gene testing remains recommended. However, genetic analysis now includes next-generation sequencing, which is generally based on custom-designed targeting panels and whole-exome sequencing. The use of next-generation sequencing also allows the identification of new causative genes, and of polygenic conditions and genetic factors that modify disease severity of hereditary anemias. In the research field, whole-genome sequencing is useful for the identification of non-coding causative mutations, which might account for the disruption of transcriptional factor occupancy sites and
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