Long-Term Complications of Sickle Cell Disease

Abstract

SCD is a prevalent genetic disorder marked by chronic complications that impact quality of life and survival. Affecting approximately 100 000 individuals in the United States and millions globally, SCD results from a mutation in the β-globin gene, leading to sickle-shaped red blood cells and subsequent vaso-occlusive episodes, hemolysis, and multiorgan damage. Despite advancements such as newborn screening and disease-modifying therapies, individuals with SCD continue to face significant long-term challenges. This review focuses on the major long-term complications of SCD, including chronic pain, mental health diagnoses, neurological deficits, infection, alloimmunization, cardiopulmonary complications, and reproductive health concerns. Pain, often a hallmark of SCD, significantly affects quality of life and requires an individualized approach to management. Depression and anxiety are prevalent and impact both psychosocial well-being and disease outcomes. Neurological complications, including stroke and cognitive deficits, pose substantial risks and require ongoing monitoring. Reproductive health concerns, such as fertility and pregnancy complications, demand careful management. Alloimmunization, a potential consequence of transfusion exposure transfusion exposure, complicates future transfusion therapy and increases the risk of delayed hemolytic transfusion reactions. Cardiopulmonary complications, including pulmonary hypertension and restrictive lung disease secondary to recurrent acute chest syndrome, are associated with increased morbidity and warrant early recognition and monitoring. This review aims to bridge the knowledge gap for general pediatricians by providing comprehensive insights into these long-term complications and offering strategies for effective management. Understanding these aspects is essential for improving patient outcomes and ensuring that pediatricians can provide informed, empathetic, and proactive care for children with SCD.