G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of red cells. It is mostly asymptomatic but manifests with mild-to-severe hemolytic anemia in certain conditions like exposure to fava beans, infections, and drugs. It can also present with chronic non-spherocytic hemolytic anemia and neonatal jaundice. For effective management, it is important to differentiate it from other types of normocytic normochromic hemolytic anemias such as other red cell enzyme defects, membrane defects, certain hemoglobinopathies, autoimmune hemolytic anemia, and micro-angiopathic hemolytic anemia. 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 G6PD deficiency. A comprehensive description o f pathophysiology of hemolysis, factors affecting the activity of G6PD enzyme, triggers of hemolysis and challenges in diagnosis of G6PD deficiency in females 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 on G6PD deficiency.