Published online Apr 26, 2021. doi: 10.12998/wjcc.v9.i12.2916
Peer-review started: December 14, 2020
First decision: January 7, 2021
Revised: January 21, 2021
Accepted: February 24, 2021
Article in press: February 24, 2021
Published online: April 26, 2021
The understanding regarding genetic variation, pathophysiology, and complications associated with pyruvate kinase deficiency (PKD) in red blood cells has been explained largely, and supportive treatment is currently the main management strategy. Etiotropic managements, including transplantation and genome editing, supplying for substitute dugs of the pyruvate kinase, are all under research.
We herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation (PBSCT). Hemoglobin was corrected to a normal level by gene correction after PBSCT, with no complication related to the transplantation.
Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.
Core Tip: We herein report a 3-year-old boy with severe transfusion-dependent pyruvate kinase deficiency (PKD) cured by unrelated identical peripheral blood stem cell transplantation. Hematopoietic stem cell transplantation could be a substitute for severe transfusion-dependent PKD, and should be carried out in the early stage of life. If there are no identical siblings available, unrelated identical peripheral blood stem cells might also be an alternative option.