Hemoglobin SC Disease: Phenotypic Variability and Therapeutic Options |Biomedgrid

Mutation in the Beta Globin Gene (HBB) leads to the formation of Hemoglobin S (HbS) and Hemoglobin C (HbC). Co-inheritance of HbS and HbC causes hemoglobin SC disease, a form of hemolytic anemia with a myriad of clinical manifestations. Valine replaces glutamic acid in the 6th position (Glu 6Val) to form HbS and Lysine replaces glutamic acid (Glu6Lys) in HbC. The interaction of HbC with HbS increases the propensity of red blood cells to sickle leading to microvascular occlusion and down-stream end organ complications.