Sickle Cell Anemia and Related Hemoglobinopathies

Sickle cell disease (SCD)is the most common structural hemoglobinopathies resulting from inherited abnormalities of globin chain synthesis. This results in vaso-occlusive crisis, acute as well as chronic hemolysis and organ damage. Sickle cell anemia (SCA) is the most common form of sickle cell disease. For effective management, it is important to differentiate SCA from other hemoglobinopathies and compound heterozygous states. In this chapter, a clinical case scenario is presented followed by a step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of SCA and other hemoglobinopathies. A comprehensive description of pathophysiology of disease, clinical phenotype when HbS is associated with other structurally abnormal hemoglobins, molecular defects in major structural hemoglobinopathies and long term complications are discussed in  question–answer format. Salient points are summarized for quick revision. To gain expertise in this topic and enhance your diagnostic skills for effective planning of management, read this chapter in sickle cell anemia and related hemoglobinopathies.