GENETIC MODULATION OF SICKLE-CELL-ANEMIA

Sickle cell anemia, a common disorder associated with reduced life spa n of the red blood cell and vasoocclusive events, is caused by a mutat ion in the beta-hemoglobin gene. Yet, despite this genetic homogeneity , the phenotype of the disease is heterogeneous. This suggests the mod ulating influence of associated inherited traits. Some of these may in fluence the accumulation of fetal hemoglobin, a hemoglobin type that i nterferes with the polymerization of sickle hemoglobin. Another inheri ted trait determines the accumulation of ru-globin chains. This review focuses on potential genetic regulators of the phenotype of sickle ce ll anemia.