Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus

Improving CRISPR-Cas nuclease specificity using truncated guide RNAs

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Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

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BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

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CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells

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Gene therapy in a patient with sickle cell disease

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Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells

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Targeted genome editing in human repopulating haematopoietic stem cells

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Fetal hemoglobin in sickle cell anemia

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Recent Approaches for Manipulating Globin Gene Expression in Treating Hemoglobinopathies

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Gene Therapy for Hemoglobinopathies

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Development of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studies

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Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?

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Advances in Sickle Cell Disease Treatments

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Combined approaches for increasing fetal hemoglobin (HbF) and de novo production of adult hemoglobin (HbA) in erythroid cells from β-thalassemia patients: treatment with HbF inducers and CRISPR-Cas9 based genome editing

Finotti, A., & Gambari, R. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2023.1204536 · Cited by 13

Enhancing CRISPR deletion via pharmacological delay of DNA-PKcsPreprint

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Red Blood Cells as Therapeutic Target to Treat Sickle Cell Disease

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Lifelong Immune Modulation Versus Hematopoietic Cell Therapy for Inborn Errors of Immunity

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Engineering Globin Gene Expression

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Genome editing for sickle cell disease: still time to correct?

Ceglie, G., Lecis, M., Canciani, G., Algeri, M., & Frati, G. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1249275 · Cited by 14

Blood Relatives: Splicing Mechanisms underlying Erythropoiesis in Health and Disease

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β-Hemoglobinopathies: The Test Bench for Genome Editing-Based Therapeutic Strategies

Barbarani, G., Łabędź, A., & Ronchi, A. E. (2020) · Frontiers in Genome Editing · doi:10.3389/fgeed.2020.571239 · Cited by 8

Innovations in Drug Discovery for Sickle Cell Disease Targeting Oxidative Stress and NRF2 Activation—A Short Review

Starlard‐Davenport, A., Palani, C. D., Zhu, X., & Pace, B. S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094192 · Cited by 10

Reverse Phase-high-performance Liquid Chromatography (RP-HPLC) Analysis of Globin Chains from Human Erythroid Cells

Chalumeau, A., Frati, G., Magrin, E., & Miccio, A. (2021) · BIO-PROTOCOL · doi:10.21769/bioprotoc.3899 · Cited by 8

Co-Treatment of Erythroid Cells from β-Thalassemia Patients with CRISPR-Cas9-Based β039-Globin Gene Editing and Induction of Fetal Hemoglobin

Cosenza, L. C., Zuccato, C., Zurlo, M., Gambari, R., & Finotti, A. (2022) · Genes · doi:10.3390/genes13101727 · Cited by 8

Sichelzellkrankheit

Distelmaier, L., Dührsen, U., & Dickerhoff, R. (2020) · Der Internist · doi:10.1007/s00108-020-00822-z · Cited by 8

Treatment decision-making in sickle cell disease patients

Booth, A., Bonham, V. L., Porteus, M. H., & Ormond, K. E. (2021) · Journal of Community Genetics · doi:10.1007/s12687-021-00562-z · Cited by 8

Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India

Hariharan, P., Kishnani, P., Sawant, P. M., Gorivale, M. S., Mehta, P., Kargutkar, N., Colah, R. B., & Nadkarni, A. H. (2020) · Annals of Hematology · doi:10.1007/s00277-020-04081-8 · Cited by 8

Epigenetic mechanisms and next-gen editing platforms in hematology: From molecular basis to therapeutic frontiers

Huang, M., Ewadi, A., Servatian, N., Noormohamadi, H., Aminov, Z., Muzammil, K., Esfahani, M. A., Abak, N., & Samarkhazan, H. S. (2025) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2025.104916 · Cited by 8

Efficient repair of human genetic defect by CRISPR/Cas9-mediated interlocus gene conversion

Yang, F., Wang, Y., Wang, Q., Pang, J., Liu, G., Yang, Y., Qin, S., Zhang, Y., Lai, Y., Fu, B., et al. (2023) · Life Medicine · doi:10.1093/lifemedi/lnad042 · Cited by 8

CRISPR technology in human diseases

Feng, Q., Li, Q., Zhou, H., Wang, Z., Lin, C., Jiang, Z., Liu, T., & Wang, D. (2024) · MedComm · doi:10.1002/mco2.672 · Cited by 8

Designing libraries for pooled CRISPR functional screens of long noncoding RNAs

Pulido-Quetglas, C., & Johnson, R. (2021) · Mammalian Genome · doi:10.1007/s00335-021-09918-9 · Cited by 7

Success Stories and Challenges Ahead in Hematopoietic Stem Cell Gene Therapy: Hemoglobinopathies as Disease Models

Yannaki, E., Psatha, N., Παπαδοπούλου, Α., Athanasopoulos, T., Gravanis, A., Roubelakis, M. G., Tsirigotis, P. D., Anagnostopoulos, Α., Anagnou, N. P., & Vassilopoulos, G. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.196 · Cited by 6

A systematic review of clinical trials for gene therapies for β-hemoglobinopathy around the world

Rós, F. A., Couto, S. C. F., Milhomens, J., Ovider, I., Tozatto‐Maio, K., Jennifer, V., Ramos, R. N., Picanço‐Castro, V., Kashima, S. H., Calado, R. T., et al. (2023) · Cytotherapy · doi:10.1016/j.jcyt.2023.05.006 · Cited by 9

Are We There Yet? How and When Specific Biotechnologies Will Improve Human Health

O’Day, E. M., Hosta‐Rigau, L., Oyarzún, D. A., Okano, H., de Lorenzo, V., von Kameke, C., AlSafar, H. S., Cao, C., Chen, G., Ji, W., et al. (2018) · Biotechnology Journal · doi:10.1002/biot.201800195 · Cited by 7

LRF Promotes Indirectly Advantageous Chromatin Conformation via BGLT3-lncRNA Expression and Switch from Fetal to Adult Hemoglobin

Chondrou, V., Shaukat, A., Psarias, G., Athanasopoulou, K., Iliopoulou, E., Damanaki, A., Stathopoulos, C., & Sgourou, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23137025 · Cited by 6

CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

Venkatesan, V., Christopher, A. C., Karuppusamy, K. V., Babu, P., Alagiri, M. K. K., & Thangavel, S. (2022) · Journal of Visualized Experiments · doi:10.3791/64064 · Cited by 6

Identification of a genomic DNA sequence that quantitatively modulates KLF1 transcription factor expression in differentiating human hematopoietic cells

Gnanapragasam, M. N., Planutis, A., Glassberg, J., & Bieker, J. J. (2023) · Scientific Reports · doi:10.1038/s41598-023-34805-5 · Cited by 6

Reduction of haemoglobin is related to metal mixtures exposure in Chinese preschoolers: Joint effect models

Fu, Y., He, M., Liu, Y., Li, M., Zhu, M., Wang, Y., Lin, W., Yu, L., Yang, L., Zhang, Y., et al. (2024) · Journal of Trace Elements in Medicine and Biology · doi:10.1016/j.jtemb.2024.127427 · Cited by 6

Phthalides serve as potent modulators to boost fetal hemoglobin induction therapy for β-hemoglobinopathies

Chen, W.-R., Chou, C., & Wang, C. C. (2019) · Blood Advances · doi:10.1182/bloodadvances.2019031120 · Cited by 6

Challenges in transfusion and the role of Thalidomide in E‐β‐Thalassemia—A case report

Javed, R., Radhakrishnan, V. S., Basu, S., & Chandy, M. (2020) · Clinical Case Reports · doi:10.1002/ccr3.3141 · Cited by 6

Genome editing for blood disorders: state of the art and recent advances

Romito, M., Rai, R., Thrasher, A. J., & Cavazza, A. (2019) · Emerging Topics in Life Sciences · doi:10.1042/etls20180147 · Cited by 7

Immune Thrombocytopenia

Li, Q., Rebetz, J., Provan, D., Porcelijn, L., Kapur, R., Egmond, S. H., Semple, E., Guo, L., Xu, S., & Semple, J. W. (2024) · doi:10.1002/9781683674023.ch100 · Cited by 6

Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftment

Boutin, J., Fayet, S., Marin, V. T. W., Bergès, C., Riandière, M., Toutain, J., Lamrissi‐Garcia, I., Thibault, C., Cappellen, D., Dabernat, S., et al. (2026) · Nature Communications · doi:10.1038/s41467-025-68177-3 · Cited by 8

A cellular reporter system to evaluate endogenous fetal hemoglobin induction and screen for therapeutic compounds

Verheul, T. C. J., Gillemans, N., Putzker, K., Majied, R., Li, T., Vasiliou, M., Eussen, B., de Klein, A., van IJcken, W. F. J., van den Akker, E., et al. (2024) · HemaSphere · doi:10.1002/hem3.139 · Cited by 5

CRISPR/Cas9 Ablated BCL11A Unveils the Genes with Possible Role of Globin Switching

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Role of gene therapy in sickle cell disease

Raghuraman, A., Lawrence, R., Shetty, R., Avanthika, C., Jhaveri, S., Pichardo, B. V., & Mujakari, A. (2024) · Disease-a-Month · doi:10.1016/j.disamonth.2024.101689 · Cited by 5

Hematopoietic stem cell therapy with gene modification to treat sickle cell disease

Ball, J., Bradley, A., Le, A., Tisdale, J. F., & Uchida, N. (2025) · Stem Cells Translational Medicine · doi:10.1093/stcltm/szaf042 · Cited by 7

Bone marrow Tfr2 deletion improves the therapeutic efficacy of the activin‐receptor ligand trap RAP‐536 in β‐thalassemic mice

Tanzi, E., Modica, S. M. D., Bordini, J., Olivari, V., Pagani, A., Furiosi, V., Silvestri, L., Campanella, A., & Nai, A. (2024) · American Journal of Hematology · doi:10.1002/ajh.27336 · Cited by 4

Homology directed correction, a new pathway model for point mutation repair catalyzed by CRISPR-Cas

Sansbury, B. M., Hewes, A. M., Tharp, O. M., Masciarelli, S. B., Kaouser, S., & Kmiec, E. B. (2022) · Scientific Reports · doi:10.1038/s41598-022-11808-2 · Cited by 4

The CRISPR Revolution in the Drug Discovery Workflow: An Industry Perspective

Lattanzi, A., & Maddalo, D. (2022) · The CRISPR Journal · doi:10.1089/crispr.2022.0002 · Cited by 4

A New Method for Programmable RNA Editing Using CRISPR Effector Cas13X.1

Li, L., Liu, W., Zhang, H., Cai, Q., Wen, D., Du, J., Sun, J., Li, L., Gao, C., Lin, P., et al. (2023) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.2023.j011 · Cited by 4

CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cellsPreprint

Chung, J. E., Magis, W., Vu, J. T., Heo, S., Wartiovaara, K., Walters, M. C., Kurita, R., Nakamura, Y., Boffelli, D., Martin, D. I. K., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/335729 · Cited by 4

Applications of gene modification technologies in the treatment of inherited diseases

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Surface plasmon resonance based analysis of the binding of LYAR protein to the rs368698783 (G>A) polymorphic Aγ-globin gene sequences mutated in β-thalassemia

Gemmo, C., Breveglieri, G., Marzaro, G., Lampronti, I., Cosenza, L. C., Gasparello, J., Zuccato, C., Fabbri, E., Borgatti, M., Chilin, A., et al. (2019) · Analytical and Bioanalytical Chemistry · doi:10.1007/s00216-019-01987-9 · Cited by 3

CRISPR Activator Approaches to Study Endogenous Androglobin Gene Regulation

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Genome-wide methylation and gene-expression analyses in thalassemia

Zhang, W., Li, X., Yu, U., Huang, X., Wang, H., Lu, Y., Liu, S., & Zhang, J. (2024) · Aging · doi:10.18632/aging.206037 · Cited by 3

Base editing of β 0 -thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathies

Hardouin, G., Martinucci, P., Scaramuzza, S., Antoniou, P., Corradi, F., Tachtsidi, A., Corre, G., Mombled, M., Chermont, J., Manceau, S., et al. (2025) · Science Translational Medicine · doi:10.1126/scitranslmed.adt8617 · Cited by 2

CRISPR editing of HPFH3 genotype induces γ-globin expression and reverses sickle cell disease and β-thalassemia phenotypes

Goswami, S. G., Gupta, P., Arvinden, V. R., Bhargava, N., Iyer, A. R., Saravanakumar, V., Yadav, P., Jha, S. K., Singh, S., Kumar, A., et al. (2025) · Stem Cell Research & Therapy · doi:10.1186/s13287-025-04582-1 · Cited by 2

Microfluidic capillary transit velocity as a functional measure for sickle cell disease and in vitro -derived red blood cells

Oshabaheebwa, S., Goreke, U., Du, Y., Wirth, C. L., Sekyonda, Z., Benson, B. L., Fadaei, P., Ley, Y. B., Perez, N. M., Giannikopoulos, P., et al. (2026) · Lab on a Chip · doi:10.1039/d5lc00769k · Cited by 2

Role of FOXO3 in regulation of redox homeostasis and promotion of red blood cell longevity in sickle cell disease

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Gene therapy and editing in the treatment of hereditary blood disorders: Medical and ethical aspects

Alburquerque, P. C., Gómez‐Tatay, L., & Aznar, J. (2021) · Clinical Ethics · doi:10.1177/14777509211057255 · Cited by 2

Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

KATTAMIS, C. A., Skafida, M., Delaporta, P., Vrettou, C., Traeger‐Synodinos, J., Sofocleous, C., & Kattamis, A. (2022) · Biology · doi:10.3390/biology11030432 · Cited by 2

Red Blood Cell Transfusion

Gammon, R. R., Rahimi‐Levene, N., Bandeira, F. M. G. D. C., & Al‐Riyami, A. Z. (2024) · Springer eBooks · doi:10.1007/978-3-031-67332-0_9 · Cited by 2

Recent advances of CRISPR/Cas9 gene editing in the treatment of β-thalassemia

Xie, Q., Lei, S.-Y., Qu, C., Wu, H., Liu, Y., Huang, P., & Teng, S. (2022) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/tb-2022-0109 · Cited by 2

Advances in transplantation and gene therapy in transfusion-dependent β-thalassemia

Angelucci, E., & Abutalib, S. A. (2018) · Advances in Cell and Gene Therapy · doi:10.1002/acg2.25 · Cited by 2

The Fabulous Impact of CRISPR Method in Sickle Cell Disease Treatment

Ebrahimi, V., & Hashemi, A. (2021) · Trends in Peptide and Protein Sciences · doi:10.22037/tpps.v6i.34202 · Cited by 2

Looking Back at Fetal Medicine in India in 2018, and Looking Forward to 2019

Verma, I. C., Lallar, M., & Arora, V. (2019) · Journal of Fetal Medicine · doi:10.1007/s40556-019-00201-1 · Cited by 2

Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategiesPreprint

Brusson, M., Chalumeau, A., Martinucci, P., Romano, O., Poletti, V., Scaramuzza, S., Ramadier, S., Masson, C., Ferrari, G., Mavilio, F., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.31.522279 · Cited by 2

Complex HBB gene editing outcomes revealed by a fluorescent reporter cell model

Karsenty, C. L., Betancourth, D., Cao, M., Pham, Q.-K., Park, S. H., & Bao, G. (2026) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2026.102854 · Cited by 1

A chance to cut (the genome) is a chance to cure

Montbleau, K. E., & Sankaran, V. G. (2018) · Blood · doi:10.1182/blood-2018-03-839787 · Cited by 1

Detection of Transversions and Transitions in HBG2 Cis-Elements Associated with Sickle Cell Allele in Ghanaians

Ababio, G. K., Ekem, I. A. E., Acquaye, J. K., Oppong, S. Y., Amoah, A. G. B., Brandful, J., & Quaye, I. K. (2023) · Biochemical Genetics · doi:10.1007/s10528-023-10438-1 · Cited by 1

Proteomics screening uncovers HMGA1 as a promising negative regulator for γ-globin expression in response to decreased β-globin levels

Zhou, G., & Lu, D. (2023) · Journal of Proteomics · doi:10.1016/j.jprot.2023.104957 · Cited by 1

Donor DNA Modification with Cas9 Targeting Sites Improves the Efficiency of MTC34 Knock-in into the CXCR4 Locus

Shepelev, M. V., Komkov, D., Golubev, D. S., Borovikova, S. E., Mazurov, D. V., & Kruglova, N. A. (2024) · Molecular Biology · doi:10.1134/s0026893324700250 · Cited by 1

Activation of γ-globin expression by a common variant disrupting IKAROS-binding motif in β-thalassemia

Luo, H., Wang, J., Qin, L., Zhang, X., Liu, H., Niu, C., Song, M., Shao, C., Xu, P., Yu, M., et al. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.10.015 · Cited by 1

Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective

Amendola, M., Bedel, A., Buj‐Bello, A., Carrara, M., Concordet, J., Frati, G., Gilot, D., Giovannangeli, C., Gutiérrez-Guerrero, A., Laurent, M., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.191 · Cited by 2

CRISPR/Cas9 deletions induce adverse on-target genomic effects leading to functional DNA in human cellsPreprint

Geng, K., Merino, L. G., Wedemann, L., Martens, A., Sobota, M., Sanchez, Y. P., Søndergaard, J. N., White, R. J., & Kutter, C. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.01.450727 · Cited by 1

Charting a noncoding gene for γ-globin activation

Blobel, G. A., & Crossley, M. (2018) · Blood · doi:10.1182/blood-2018-09-873620

Current standards and the latest developments in the treatment of thalassaemia

Teawtrakul, N. (2020) · ISBT Science Series · doi:10.1111/voxs.12556

Generating Isogenic Models of Li-Fraumeni Syndrome and Restoring p53 using CRISPR

Tran, J. (2020) · TSpace (University of Toronto)

Genome‐Editing Applications in Stem Cell Engineering and Regenerative Medicine

Gupta, P., Jaitly, S., Thakur, P., Goswami, S. G., Bhargava, N., & Ramalingam, S. (2022) · Wiley eBooks · doi:10.1002/9781119671404.ch17

Efficient repair of human homozygous genetic mutation by CRISPR/Cas9 mediated interlocus gene conversionPreprint

Yang, F., Pang, J., Liu, G., Yang, Y., Qin, S., Zhang, Y., Lai, Y., Liang, D., & Wu, Y. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.05.506576

Genome Editing with CRISPR‐Cas Systems

Lotfy, P., & Hsu, P. D. (2022) · Wiley eBooks · doi:10.1002/9781683673798.ch11

Prioritization of The Zinc finger domain within BCL11A by the Amelioration capability of hemoglobinopathies using CRISPR-Cas9 technologyPreprint

Mumtaz, K., Hussain, I., Iftikhar, F., Rehman, F. U., Jameel, M., Farooq, S., Hassan, H., Fatima, A., Ottmann, O. G., & Mian, A. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.28.568974

CRISPR-Cas9 Gene Editing Therapy, a Curative Hope for Sickle Cell in Nigeria, West Africa

Olowu, B. I., Olaide, A., & Tinubu, O. B. (2024) · International Journal of Genetics and Genomics · doi:10.11648/j.ijgg.20241203.11

Applications of CRISPR technology

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Increasing the Level of Knock-In of the MT-C34-Encoding Construct into the CXCR4 Locus by Modifying Donor DNA with Cas9 Target Sites

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