Congenital Dyserythropoietic Anemia

Congenital dyserythropoietic anemia (CDA) belongs to a group of rare inherited but serious type of anemias characterized by maturation arrest of erythropoiesis in bone marrow. For effective management, it is important to differentiate CDA from thalassemia, other structural hemoglobinopathies, hereditary pyropoikilocytosis, and conditions like PNH and unstable hemoglobins. In this chapter, pathophysiology of CDA, characteristic morphological changes in bone marrow, correlation with the results of investigations and how PNH is related to type II CDA are discussed. 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 CDA. 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 congenital dyserythropoietic anemia.