title: Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia.
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.
authors.affiliation: Pediatric Oncology Center, National Cancer Center, Ilsandong-gu, Goyang, Korea.
authors.forename: Jeong A
authors.initials: JA
authors.lastname: Park
authors.forename: Yeon Jung
authors.initials: YJ
authors.lastname: Lim
authors.forename: Hyeon Jin
authors.initials: HJ
authors.lastname: Park
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Kong
authors.forename: Byung Kiu
authors.initials: BK
authors.lastname: Park
authors.forename: Thad T
authors.initials: TT
authors.lastname: Ghim
mesh_terms: 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
chemical_list: D010751:Phosphopyruvate Hydratase