1.Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia.
Jeong A PARK ; Yeon Jung LIM ; Hyeon Jin PARK ; Sun Young KONG ; Byung Kiu PARK ; Thad T GHIM
Journal of Korean Medical Science 2010;25(4):626-629
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.
*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