ReviewMedicine2021
Molecular genetics of β-thalassemia: A narrative review.
Review in Medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 31 citations in OpenAlex.
- Safety and pharmacodynamics of the ferroportin inhibitor vamifeport in patients with non-transfusion-dependent β-thalassemia: results from a randomized phase 2a study.Orphanet journal of rare diseases · 2025Trial
- Article
- Accurate identification of sickle cell disease cases in a large genotyped cohort using electronic health record data.Blood advances · 2026Article
- β-Thalassemia Minor and Pregnancy Outcomes: Pathophysiology, Clinical Implications, and Management.Medical sciences (Basel, Switzerland) · 2026Review
- Glomerular Injury Findings in Patients with Thalassemia Minor.International journal of molecular sciences · 2026Article
- Circ_0001428 regulates erythropoiesis and γ-globin expression via activating the ATF4-BCL11A axis in β-thalassemia.Cellular and molecular life sciences : CMLS · 2026Article
- Article
- Molecular Epidemiology of Thalassemia in University Town, Chongqing: Spectrum of Pathogenic Variants and Implications for Carrier Screening.Pharmacogenomics and personalized medicine · 2026Article
- Glymphatic dysfunction as an imaging biomarker for cognitive impairment in patients with β-thalassemia major: A multimodal MRI study.European journal of radiology open · 2025Article
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- Advancing Hematopoietic Stem Cell Transplantation (HSCT) in Africa: A Pathway to Curing Hematological Disorders.Health science reports · 2025Article
- Assessment of β-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Review
- Iron overload and morbidities in Chinese with non-transfusion-dependent thalassaemia.British journal of haematology · 2025Article
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- A case of erosive oral lichen planus in a child affected by β-Thalassemia after 5 years from bone marrow transplantation.BMC oral health · 2025Article
- Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Orphan Nuclear Receptors TR2 and TR4 in Erythropoiesis: From Mechanisms to Therapies.Biomolecules · 2025Review
- Beta thalassemia syndromes: New insights.World journal of clinical cases · 2025Review
- Assessing oxidative stress in foetuses with β-globin gene mutations.The Indian journal of medical research · 2025Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
abstractβ-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia. However, the generation of an additive composite genetic risk score predicts prognosis, and guide management requires a larger panel of genetic modifiers yet to be discovered.Presently, using data from prior clinical trials guides the design of further research and academic studies based on gene augmentation, while fundamental insights into globin switching and new technology developments have inspired the investigation of novel gene therapy approaches.Genetic studies have successfully characterized the causal variants and pathways involved in HbF regulation, providing novel therapeutic targets for HbF reactivation. In addition to these HBB mutation-independent strategies involving HbF synthesis de-repression, the expanding genome editing toolkit provides increased accuracy to HBB mutation-specific strategies encompassing adult hemoglobin restoration for personalized treatment of hemoglobinopathies. Allogeneic hematopoietic stem cell transplantation was, until very recently, the curative option available for patients with transfusion-dependent β-thalassemia. Gene therapy currently represents a novel therapeutic promise after many years of extensive preclinical research to optimize gene transfer protocols.We summarize the current state of developments in the molecular genetics of β-thalassemia over the last decade, including the mechanisms associated with ineffective erythropoiesis, which have also provided valid therapeutic targets, some of which have been shown as a proof-of-concept.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.