Rosa J
Nouv Rev Fr Hematol (1978). 1981;23(2):79-88.
The present report reviews the knowledge on the structure of the genes coding for the various embryonic fetal and adult chains of normal human hemoglobins. The various molecular lesions found until now in alpha- and beta-thalassemias and also in hereditary persistance of fetal hemoglobin (HPHF). During the structural studies an unexpected DNA polymorphism has been detected. This polymorphism can be used in some cases of antenatal diagnosis either of sickle cell or of some thalassemias. The method developed can be applied to studies of population genetic.
本报告回顾了关于编码正常人血红蛋白各种胚胎、胎儿及成人链的基因结构的知识。迄今在α地中海贫血和β地中海贫血以及胎儿血红蛋白遗传性持续存在（HPHF）中发现的各种分子病变。在结构研究过程中检测到一种意外的DNA多态性。这种多态性可用于镰状细胞病或某些地中海贫血的一些产前诊断病例。所开发的方法可应用于群体遗传学研究。
