Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia.
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.
Park
Jeong A
JA
Pediatric Oncology Center, National Cancer Center, Ilsandong-gu, Goyang, Korea.
Lim
Yeon Jung
YJ
Park
Hyeon Jin
HJ
Kong
Sun Young
SY
Park
Byung Kiu
BK
Ghim
Thad T
TT
D029503:Anemia, Diamond-Blackfan / Q000097:blood / Q000201:enzymology / Q000601:surgery; D001854:Bone Marrow Cells / Q000166:cytology / Q000378:metabolism; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D010751:Phosphopyruvate Hydratase / Q000235:genetics / Q000378:metabolism*; D014184:Transplantation, Homologous
D010751:Phosphopyruvate Hydratase