Genetic screening in sickle cell anemia

Abstract

Sickle cell anemia (SCA) is a monogenic genetic disorder characterized by sickle-shaped red blood cells and chronic anemia. SCA is caused by mutations in the HBB gene, inherited in an autosomal recessive fashion. Notably, the diagnosis is made by hemoglobin electrophoresis or high-performance liquid chromatography, rather than by genetic testing. Several lines of evidence report that the SCA complications and other clinical aspects are associated with multiple genetic polymorphisms.