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

Clin Case Rep. 2018 Aug 1;6(9):1841-1844. doi: 10.1002/ccr3.1667. eCollection 2018 Sep.

Abstract

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.

Keywords: SLC25A38; hematopoietic stem cell transplantation; sideroblastic anemia.

Publication types

  • Case Reports