Olivieri N F, Weatherall D J
Division of Haematology/Oncology, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Hum Mol Genet. 1998;7(10):1655-8. doi: 10.1093/hmg/7.10.1655.
Unusually high levels of fetal haemoglobin production can ameliorate sickle cell disease and beta thalassaemia. Although efforts directed at the pharmacological stimulation of fetal haemoglobin as an approach to managing these conditions have met with limited success, there is wide variation in individual responses. Whether this reflects the particular mutations that underlie these conditions or other genetic factors remains to be determined, as does the ideal combination of agents to achieve this end. These results are encouraging, however, in particular in view of the recent demonstration that other monogenic diseases, Duchenne muscular dystrophy, for example, might be amenable to the same therapeutic strategy.
胎儿血红蛋白的异常高水平产生可改善镰状细胞病和β地中海贫血。尽管旨在通过药物刺激胎儿血红蛋白来治疗这些疾病的努力取得的成功有限，但个体反应存在很大差异。这是反映这些疾病潜在的特定突变还是其他遗传因素，以及实现这一目标的理想药物组合，都有待确定。然而，这些结果令人鼓舞，特别是鉴于最近的研究表明，其他单基因疾病，例如杜氏肌营养不良症，可能也适用于相同的治疗策略。
