ArticleNature medicine2016
A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition.
Article in Nature medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 213 papers, 1 of them a synthesis that pooled it.
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Who cites it
213 citing papers in PubMed, 1 synthesis or guideline pooled it, 378 citations in OpenAlex.
- Using Clustered Regularly Interspaced Short Palindromic Repeats gene editing to induce permanent expression of fetal hemoglobin in β-thalassemia and sickle cell disease: A comparative meta-analysis.Frontiers in medicine · 2022Pooled it
- CRISPR-Cas9 Editing of theThe New England journal of medicine · 2023Trial
- Enhanced γ-globin reactivation and sickle cell correction through a repressor-to-activator motif switch in theMolecular therapy. Nucleic acids · 2026Article
- Modeling Genetic Diversity in Sickle Cell Disease Reveals Heterogeneous Responses to HbF-Inducing Therapies.bioRxiv : the preprint server for biology · 2026Article
- Article
- CRISPR-Cas9-Mediated Gene Editing in Hematological Disorders: Advancing Translational and Clinical Applications.Cureus · 2026Review
- Complex HBB gene editing outcomes revealed by a fluorescent reporter cell model.Molecular therapy. Nucleic acids · 2026Article
- In vivo genome editing of human haematopoietic stem cells for treatment of blood disorders using mRNA delivery.Nature biomedical engineering · 2026Article
- Article
- Functional correction and genome integrity with duplex base editing of β-thalassemic hematopoietic stem cells.Genome biology · 2026Article
- Nonclinical evaluation of renizgamglogene autogedtemcel for SCD and TDT.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- CRISPR and Fanzor in sickle cell disease: current progress and future prospects.Frontiers in genome editing · 2026Review
- In situ gene editing of hematopoietic stem cells via AAV-delivered CRISPR guide RNAs.Blood advances · 2025Article
- CRISPR editing of HPFH3 genotype induces γ-globin expression and reverses sickle cell disease and β-thalassemia phenotypes.Stem cell research & therapy · 2025Article
- Gene Therapy of Beta Hemoglobinopathies.Biomedicines · 2025Review
- CRISPR-based therapeutic genome editing for inherited blood disorders.Nature reviews. Drug discovery · 2025Review
- Article
- Review
- Multiplex base editing of BCL11A regulatory elements to treat sickle cell disease.Cell reports. Medicine · 2025Article
- Review
153 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Disorders resulting from mutations in the hemoglobin subunit beta gene (HBB; which encodes β-globin), mainly sickle cell disease (SCD) and β-thalassemia, become symptomatic postnatally as fetal γ-globin expression from two paralogous genes, hemoglobin subunit gamma 1 (HBG1) and HBG2, decreases and adult β-globin expression increases, thereby shifting red blood cell (RBC) hemoglobin from the fetal (referred to as HbF or α2γ2) to adult (referred to as HbA or α2β2) form. These disorders are alleviated when postnatal expression of fetal γ-globin is maintained. For example, in hereditary persistence of fetal hemoglobin (HPFH), a benign genetic condition, mutations attenuate γ-globin-to-β-globin switching, causing high-level HbF expression throughout life. Co-inheritance of HPFH with β-thalassemia- or SCD-associated gene mutations alleviates their clinical manifestations. Here we performed CRISPR-Cas9-mediated genome editing of human blood progenitors to mutate a 13-nt sequence that is present in the promoters of the HBG1 and HBG2 genes, thereby recapitulating a naturally occurring HPFH-associated mutation. Edited progenitors produced RBCs with increased HbF levels that were sufficient to inhibit the pathological hypoxia-induced RBC morphology found in SCD. Our findings identify a potential DNA target for genome-editing-mediated therapy of β-hemoglobinopathies.
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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.