Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Abstract

Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented. Her transfusion dependence was fully reversed following allogeneic hematopoietic stem cell transplantation using a modified reduced‐intensity conditioning regimen, and she remains healthy 5 years posttransplant.