几十年来,众所周知镰状细胞贫血是由于红细胞中血红蛋白变异体(血红蛋白S)的纯合子遗传,而不是由血红蛋白A引起。镰状细胞贫血可引起许多并发症,包括累及几乎全身每个部位的反复性疼痛发展(“危象”)、血栓栓塞现象、反复性感染和寿命缩短。镰状血红蛋白是单一点突变能起作用而引人注意的例子。镰状血红蛋白是由于缬氨酸置换成人血红蛋白四聚体β链第6个位置上谷氨酸的结果。 Sickle-cell anemia is well known for decades as a result of homozygous inheritance of the hemoglobin variant (hemoglobin S) in red blood cells rather than hemoglobin A. Sickle-cell anemia can cause many complications, including recurrent pain (“crisis”) involving almost every part of the body, thromboembolic events, recurrent infections and shortened life span. Sickle hemoglobin is a striking example of how a single point mutation works. Sickle hemoglobin is the result of valine replacement of glutamic acid at the 6th position of the beta chain of the human hemoglobin tetramer.