Nienhuis A W, Benz E J
N Engl J Med. 1977 Dec 29;297(26):1430-6. doi: 10.1056/NEJM197712292972604.
In this article we have surveyed the current state of knowledge regarding the accumulation of globin mRNA and hemoglobin in red cells. We have attempted to examine the interplay of numerous processes that seem to be necessary to achieve this highly differentiated state. Finally, we have made an effort to formulate some of the mechanisms whereby individual red cells may come to contain varying proportions of specific hemoglobins. The past several years have been characterized by a veritable explosion of knowledge concerning the globin structure genes, and the structure, transcription, processing and function of globin mRNA in erythroid cells. It now seems possible to analyze the earlier stages of erythropoiesis by cultivation and examination of erythroid colonies in vitro. The primary differentiation events leading to the production of specific globins, especially for hemoglobin F production in man, are now experimentally accessible. There is good reason to hope that these advances will soon permit achievement of the long desired therapeutic goal of enhancing hemoglobin F synthesis in patients with severe beta-chain hemoglobinopathies. Our aim has been to review the scientific information that might provide the rationable for amelioration of the clinical phenotypes in patients inheriting abnormal globin genes.
在本文中，我们综述了关于红细胞中珠蛋白mRNA和血红蛋白积累的当前知识状态。我们试图研究众多过程之间的相互作用，这些过程似乎是实现这种高度分化状态所必需的。最后，我们努力阐述了一些机制，通过这些机制单个红细胞可能含有不同比例的特定血红蛋白。在过去几年里，关于珠蛋白结构基因以及红细胞中珠蛋白mRNA的结构、转录、加工和功能的知识有了名副其实的爆炸式增长。现在似乎可以通过体外培养和检查红细胞集落来分析红细胞生成的早期阶段。导致产生特定珠蛋白的主要分化事件，特别是人类胎儿血红蛋白的产生，现在在实验上是可以实现的。我们有充分的理由希望，这些进展将很快实现长期以来期望的治疗目标，即增强严重β链血红蛋白病患者的胎儿血红蛋白合成。我们的目的是回顾那些可能为改善继承异常珠蛋白基因患者的临床表型提供理论依据的科学信息。
