Modulation of the Phenotypic Diversity of Sickle Cell Anemia

Abstract

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.