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  • Title: Cord blood transplantation in a young child with pyruvate kinase deficiency.
    Author: Akiyoshi K, Sekiguchi K, Okamoto T, Suenobu S, Izumi T.
    Journal: Pediatr Int; 2016 Jul; 58(7):634-6. PubMed ID: 27460399.
    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.
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