Modulation of the phenotypic diversity of sickle cell anemia.

Sickle cell anemia is noted for being phenotypically heterogeneous. This suggests that there are genetic influences that moderate the effects of the sickle hemoglobin mutation. In this review I focus on genetically determined modulation of hemoglobin concentration and fetal hemoglobin levels. Each of these variables has important influences upon sickle hemoglobin polymerization and the resulting pathophysiology.

镰状细胞贫血以表型异质性著称。这表明存在一些遗传影响因素，可调节镰状血红蛋白突变的效应。在这篇综述中，我重点关注由基因决定的血红蛋白浓度和胎儿血红蛋白水平的调节。这些变量中的每一个都对镰状血红蛋白聚合以及由此产生的病理生理学具有重要影响。