Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia.
10.3346/jkms.2010.25.4.626
- Author:
Jeong A PARK
1
;
Yeon Jung LIM
;
Hyeon Jin PARK
;
Sun Young KONG
;
Byung Kiu PARK
;
Thad T GHIM
Author Information
1. Pediatric Oncology Center, National Cancer Center, Goyang, Korea. thadghim@gmail.com
- Publication Type:Case Reports
- Keywords:
Anemia, Diamond-Blackfan;
Erythrocyte Enzyme Deficiency;
Red Cell Enolase Deficiency;
Bone Marrow Transplantation
- MeSH:
*Anemia, Diamond-Blackfan/blood/enzymology/surgery;
Bone Marrow Cells/cytology/metabolism;
*Bone Marrow Transplantation;
Child;
Child, Preschool;
Erythrocytes/*enzymology;
Female;
Humans;
Infant;
Phosphopyruvate Hydratase/genetics/*metabolism;
*Transplantation, Homologous
- From:Journal of Korean Medical Science
2010;25(4):626-629
- CountryRepublic of Korea
- Language:English
-
Abstract:
We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short tandem repeat has continuously demonstrated a stable mixed chimerism on follow-up, the patient remains transfusion independent and continues to show a steady increase in red cell enolase activity for over two and a half years following bone marrow transplantation.
