Hereditary Pyropoikilocytosis

Hereditary pyropoikilocytosis (HPP) belongs to a group of inherited hemolytic anemias and demands an accurate and timely diagnosis to avoid inappropriate interventions and to prevent complications. For effective management, it is important to differentiate it from other types of anemia which present with marked anisopoikilocytosis on blood film, such as thalassemia, congenital dyserythropoietic anemia, and myelofibrosis, as well as from other red cell membrane defects. 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 HPP. A comprehensive description of pathophysiology of disease, most common symptoms and signs, their correlation with results of investigations and relation of HPP to hereditary elliptocytosis (HE), South East Asian ovalocytosis (SAO), hereditary stomatocytosis, and abetalipoproteinemia 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 pyropoikilocytosis.