Barrett J, McCarthy D
Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Blood Rev. 1990 Jun;4(2):116-31. doi: 10.1016/0268-960x(90)90035-q.
In 1967, a congenital disorder, severe combined immune deficiency disease, (SCID), was the first condition to be successfully corrected by bone marrow transplantation (BMT) from a histocompatible matched sibling donor. Since then the number of inherited disorders in which BMT has been used has been greatly extended. In preface, it should be stressed that BMT represents only one aspect of the management of genetic disorders which includes first and foremost detection and prevention by antenatal screening. Enzyme replacement treatment and the development of genetic engineering techniques to correct the underlying fault are being actively explored. However, reliable screening programmes are only feasible in a minority of disorders, of which thalassaemia is an example. Enzyme replacement treatment has been largely unsuccessful, and despite considerable advances in the understanding of gene regulation, at present BMT represents the only practice capable of correcting genetic disorders and improving the quality of life of affected individuals.
1967年，一种先天性疾病——严重联合免疫缺陷病（SCID），成为首例通过来自组织相容性匹配的同胞供体的骨髓移植（BMT）而成功治愈的病症。从那时起，使用BMT治疗的遗传性疾病数量大幅增加。在此需要强调的是，骨髓移植只是遗传性疾病治疗的一个方面，而遗传性疾病的治疗首先包括通过产前筛查进行检测和预防。目前正在积极探索酶替代疗法以及利用基因工程技术纠正潜在缺陷。然而，可靠的筛查方案仅在少数疾病中可行，地中海贫血就是其中一例。酶替代疗法在很大程度上并不成功，尽管在基因调控的理解方面取得了相当大的进展，但目前骨髓移植仍是唯一能够纠正遗传性疾病并改善患者生活质量的方法。
