Non-Sickle Cell Structural Hemoglobinopathies

Hemoglobinopathies are common inherited diseases around the world. There are many structural hemoglobin variants. Examples of non-sickle cell hemoglobinopathies include HbC, HbE, HbD, hemoglobin O-Arab, and many more subtypes. They have highly variable clinical phenotypes which arise from co-inheritance of these structural variants with thalassemia, resulting in clinical course ranging from mild to moderate to severe lifelong anemia. In this chapter, clinical case scenario is presented for HbC, HbE, and HbD followed by a step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of structural hemoglobinopathies. A comprehensive description of pathophysiology of disease, occurrence of proliferative retinopathy and avascular necrosis when HbC co-inherits with HbS (HbSC disease), the clinical phenotype when HbE co-inherits with beta0 Thalassemia (Hb E β0-thalassemia) and the clinical presentation in homozygous HbD state (HbDHbD) 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 non-sickle cell structural hemoglobinopathies.