Allogeneic hematopoietic stem cell transplantation in a case of congenital sideroblastic anemia with SLC25A38 mutation
Preprint from
Authorea Preprints
31 January 2024
PPR
PPR798511
Abstract
Congenital sideroblastic anemia (CSA) is a rare genetic disease. SLC25A38 encodes a member of the mitochondrial membrane carrier protein family. Mutations in SLC25A38 have been found to be an important cause of transfusion-dependent CSA. Evidence-based medical treatment guidelines for CSA remain lacking, and hematopoietic stem cell transplantation (HSCT) is currently the only proven curative therapy for this disease. In this report, we successfully cure a 6-year-old patient with SLC25A38 mutation. Our patient underwent HSCT from a human leukocyte antigen (HLA)-identical unrelated donor, his hematopoiesis was reconstructed, anemia was corrected, and thereby the patient achieved long-term survival.