Hemoglobinopathies and Cellular Therapy: What Pediatricians Need to Know About Indications and Counseling

Hemoglobinopathies are inherited disorders of hemoglobin structure or production. Sickle cell disease (SCD) results from a beta-globin mutation causing hemoglobin polymerization, red blood cell sickling, vaso-occlusion, and hemolytic anemia. Thalassemia results from reduced or absent alpha- or beta-globin synthesis, ranging from asymptomatic carrier states to transfusion-dependent anemia. This article summarizes the pathophysiology, diagnosis, management, and curative options for SCD and transfusion-dependent thalassemia, emphasizing allogeneic hematopoietic stem cell transplantation and approved gene therapies. We discuss indications, counseling, barriers to access, toxicity, donor availability, fertility counseling, and comparative features of cellular therapies. Advances in transplantation, gene addition, and gene editing may expand access to curative-intent therapy and improve outcomes for selected patients.