{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:20:04Z","timestamp":1790518804388,"version":"4.1.0"},"reference-count":119,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T00:00:00Z","timestamp":1611792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["865797 DITSB"],"award-info":[{"award-number":["865797 DITSB"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013465","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["22206 and 22399."],"award-info":[{"award-number":["22206 and 22399."]}],"id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>\u03b2-hemoglobinopathies are the most common genetic disorders worldwide and are caused by mutations affecting the production or the structure of adult hemoglobin. Patients affected by these diseases suffer from anemia, impaired oxygen delivery to tissues, and multi-organ damage. In the absence of a compatible donor for allogeneic bone marrow transplantation, the lifelong therapeutic options are symptomatic care, red blood cell transfusions and pharmacological treatments. The last decades of research established lentiviral-mediated gene therapy as an efficacious therapeutic strategy. However, this approach is highly expensive and associated with a variable outcome depending on the effectiveness of the viral vector and the quality of the cell product. In the last years, genome editing emerged as a valuable tool for the development of curative strategies for \u03b2-hemoglobinopathies. Moreover, due to the wide range of its applications, genome editing has been extensively used to study regulatory mechanisms underlying globin gene regulation allowing the identification of novel genetic and pharmacological targets. In this work, we review the current advances and challenges of genome editing approaches to \u03b2-hemoglobinopathies. Special focus has been directed towards strategies aimed at correcting the defective \u03b2-globin gene or at inducing fetal hemoglobin (HbF), which are in an advanced state of clinical development.<\/jats:p>","DOI":"10.3390\/jcm10030482","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T09:03:45Z","timestamp":1611824625000},"page":"482","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Genome Editing for \u03b2-Hemoglobinopathies: Advances and Challenges"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5584-6060","authenticated-orcid":false,"given":"Giacomo","family":"Frati","sequence":"first","affiliation":[{"name":"Laboratory of Chromatin and Gene Regulation during Development, Imagine Institute, Universit\u00e9 de Paris, INSERM UMR 1163, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annarita","family":"Miccio","sequence":"additional","affiliation":[{"name":"Laboratory of Chromatin and Gene Regulation during Development, Imagine Institute, Universit\u00e9 de Paris, INSERM UMR 1163, F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0140-6736(12)61229-X","article-title":"Global epidemiology of sickle haemoglobin in neonates: A contemporary geostatistical model-based map and population estimates","volume":"381","author":"Piel","year":"2013","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"811","DOI":"10.3324\/haematol.2013.099747","article-title":"Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: Indications and management recommendations from an international expert panel","volume":"99","author":"Angelucci","year":"2014","journal-title":"Haematologica"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1182\/blood-2016-10-745711","article-title":"Sickle cell disease: An international survey of results of HLA-identical sibling hematopoietic stem cell transplantation","volume":"129","author":"Gluckman","year":"2017","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1054\/blre.2002.0192","article-title":"The cure of thalassemia by bone marrow transplantation","volume":"16","author":"Lucarelli","year":"2002","journal-title":"Blood Rev."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1097\/MOH.0000000000000280","article-title":"Transplantation for thalassemia major","volume":"23","author":"Locatelli","year":"2016","journal-title":"Curr. 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