Congenital Disorders of Red Blood Cells

Abstract

See Bonus NeoBriefs videos and downloadable teaching slides Understanding the physiologic process of red blood cell development in utero and subsequent erythropoiesis in the neonate is crucial as this determines red blood cell structure and therefore function, which is vital to neonatal health. Infants frequently experience anemia, and special consideration must be given to the evaluation of these infants to determine the correct etiology. Traditionally, anemia is conceptualized in terms of inadequate red blood cell production, increased red blood cell destruction, or whole blood loss. This framework translates well to inherited red blood cell defects, which include genetic abnormalities in bone marrow productivity or structure of the red blood cell membrane, enzymes, or hemoglobin. This article highlights fetal and neonatal erythropoiesis and the underlying etiologies of the inherited red blood cell disorders, as well as reviews the appropriate diagnostic evaluation and next steps in management. It is imperative that neonatal clinicians remain informed about these disorders to enable early recognition and treatment, and ultimately to improve outcomes in affected infants.