Hemoglobinopathies in the Neonate

Hemoglobinopathies in neonates constitute a group of disorders influenced by genetic mutations in the human globin genes. They are often broadly categorized into quantitative defects or qualitative defects, though they are not mutually exclusive. In quantitative defects, the mutation causes insufficient production of a normal globin chain, which can range from no production to mild deficiency. These are typically referred to as thalassemias. In qualitative defects, the structure of the hemoglobin is altered. The most common structural hemoglobinopathy is sickle cell disease. During fetal development, distinct globin chains are synthesized, which undergo a progressive switch to adult globin chains perinatally. This affects the timing of the clinical presentation of these disorders and thus, our ability to diagnose them. In this review, we focus on the epidemiology, genetic causes, clinical presentation, and general overview and management of common hemoglobin disorders that may be encountered in the neonatal period.