ArticleFrontiers in physiology2021
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
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 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Catalog of 73 novel variants in thalassemia: discoveries and insights.Human molecular genetics · 2025Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- Editorial: Insights in thalassemia: from genomics to clinical practice.Frontiers in pediatrics · 2023Article
- Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation.Frontiers in immunology · 2023Article
- The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies.Frontiers in physiology · 2021Review
- Red Blood Cells in Health and Disease.Journal of microscopy and ultrastructureReview
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). The clinical picture of UHs is highly heterogeneous, inheritance pattern is dominant, instead of recessive as in more prevalent major Hb syndromes, and may occur
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