title: Cord blood transplantation in a young child with pyruvate kinase deficiency.
abstract: Unrelated cord blood transplantation (CBT) was performed for the treatment of pyruvate kinase (PK) deficiency in a female pediatric patient at the age of 1 year 7 months, who had been in severe and frequent transfusion-dependent hemolytic anemia, despite red blood cell (RBC) PK activity 5.52 IU/gHb. pyruvate kinase-liver and RBC (PK-LR) had a compound heterozygous mutation located on exon 8: c.1044G > T/c.1076G > A (K348N/R359H). Hemoglobin and RBC PK corrected to 13.5 g/dL and 9.00 IU/gHb, respectively, with gene correction at 6 months after CBT. CBT should be considered as an option for useful treatment in children with severe PK deficiency in the absence of HLA identical sibling with normal RBC PK activity.
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Hasama, Yufu, Oita, Japan.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Akiyoshi
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Hasama, Yufu, Oita, Japan.
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Sekiguchi
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Hasama, Yufu, Oita, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Okamoto
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Hasama, Yufu, Oita, Japan.
authors.forename: So-Ichi
authors.initials: S
authors.lastname: Suenobu
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Hasama, Yufu, Oita, Japan.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Izumi
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000175:diagnosis / Q000601:surgery*; D004912:Erythrocytes / Q000166:cytology*; D005260:Female; D005312:Fetal Blood / Q000166:cytology*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency*; D015323:Pyruvate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000601:surgery*
chemical_list: D011770:Pyruvate Kinase
keywords: Hemochromatosis; Pyruvate kinase deficiency; Unrelated cord blood transplantation; pyruvate kinase-liver and RBC