Glenthøj Andreas, Carlsen Sarah Birgitte Ingemod Sand, Hoffmann Marianne, Haastrup Eva Kannik, Andersen Lisbeth Pernille, Toft Nina, Kornblit Brian Thomas, Petersen Jesper Brix, Hasle Henrik, Ifversen Marianne Rosenkrantz Segelcke
Dansk Center for Røde Blodceller, Afdeling for Blodsygdomme, Københavns Universitetshospital - Rigshospitalet.
Institut for Klinisk Medicin, Københavns Universitet.
Ugeskr Laeger. 2025 May 26;187(22):V12240888. doi: 10.61409/V12240888.
Severe haemoglobinopathies, including sickle cell disease and β-thalassaemia, represent significant global health burdens. CRISPR technology enables precise genetic editing of haematopoietic stem cells, with current therapies focused on boosting fetal haemoglobin production for a functional cure. This review finds that, while promising, ex vivo approaches require advanced facilities and substantial resources, limiting accessibility where the need is highest. Future development of in vivo methods may expand global access, addressing the urgent need for scalable and affordable treatments for these debilitating diseases.
严重血红蛋白病，包括镰状细胞病和β地中海贫血，是全球重大的健康负担。CRISPR技术能够对造血干细胞进行精确的基因编辑，目前的治疗方法主要集中在提高胎儿血红蛋白的产量以实现功能性治愈。本综述发现，尽管体外方法很有前景，但需要先进的设施和大量资源，这限制了在需求最高地区的可及性。体内方法的未来发展可能会扩大全球可及性，满足对这些使人衰弱疾病进行可扩展且负担得起的治疗的迫切需求。
