Hereditary Spherocytosis

Hereditary spherocytosis (HS) belongs to a group of inherited anemias and is the most common cause of hemolytic anemia due to membrane defects. For effective management, it is important to diagnose it early and differentiate it from other inherited causes of hemolytic anemia such as thalassemia, other structural hemoglobinopathies, red cell enzyme defects, and conditions like autoimmune hemolytic anemia and PNH. In this chapter, a clinical case scenario is presented followed by step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of HS. A comprehensive description of pathophysiology of disease, most common symptoms and signs, and their correlation with results of investigations, difference between extravascular and intravascular hemolysis, conditions with spherocytes on peripheral blood and diseases with abnormal osmotic fragility test result are presented 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 on hereditary spherocytosis.