ABSTRACT
There are four main genotypes/variants of sickle cell disease: homozygous hemoglobin (Hb) SS sickle cell disease, Hb SC, Hb S/beta-zero thalassemia and Hb S/beta-plus thalassemia sickle cell disease. In addition to these, other less common variants exist. Sickle cell disease can be diagnosed by several methods: high-performance liquid chromatography (HPLC), isoelectric focusing, hemoglobin electrophoresis and beta-globin genetic sequencing. A peripheral smear may also reveal sickled cells and target cells in the case of Hb SC disease and the sickle beta thalassemias. Following beta-globin genetic sequencing which provides a definitive diagnosis, HPLC is the testing method of choice. In this chapter, we describe the laboratory profile of the various sickle cell variants.
