PDF(Pubmed)
Abstract：
Diamond-Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow\'s ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in ribosomal protein (RP) genes, classifying it as a ribosomopathy, with RPS19 being the most frequently mutated gene. Non-RP mutations, such as in GATA1, have also been identified. Current treatments include glucocorticosteroids, blood transfusions, and hematopoietic stem cell transplantation (HSCT), with HSCT being the only curative option, albeit with challenges like donor availability and immunological complications. Gene therapy, particularly using lentiviral vectors and CRISPR/Cas9 technology, emerges as a promising alternative. This review explores the potential of gene therapy, focusing on lentiviral vectors and CRISPR/Cas9 technology in combination with non-integrating lentiviral vectors, as a curative solution for DBA. It highlights the transformative advancements in the treatment landscape of DBA, offering hope for individuals affected by this condition.
摘要：
Diamond-Blackfan贫血（DBA）是一种罕见的遗传性疾病，影响骨髓产生红细胞的能力，导致严重贫血和各种身体异常。大约75％的DBA病例涉及核糖体蛋白（RP）基因的杂合突变，将其归类为核糖体病，RPS19是最常见的突变基因。非RP突变,例如在GATA1中，也已确定。目前的治疗包括糖皮质激素，输血,和造血干细胞移植（HSCT），HSCT是唯一的治疗选择，尽管存在供体可用性和免疫并发症等挑战。基因治疗,特别是使用慢病毒载体和CRISPR/Cas9技术，作为一个有希望的替代方案出现。这篇综述探讨了基因治疗的潜力，重点关注慢病毒载体和CRISPR/Cas9技术与非整合慢病毒载体的结合，作为DBA的治愈解决方案。它突出了DBA治疗领域的变革性进步，为受这种情况影响的个人提供希望。
