Cord blood transplantation in a young child with pyruvate kinase deficiency

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....

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Bibliographic Details
Published in:Pediatrics international 2016-07, Vol.58 (7), p.634-636
Main Authors: Akiyoshi, Kensuke, Sekiguchi, Kazuhito, Okamoto, Tomoko, Suenobu, So‐ichi, Izumi, Tatsuro
Format: Article
Language:English
Subjects:
Anemia, Hemolytic, Congenital Nonspherocytic - blood
Anemia, Hemolytic, Congenital Nonspherocytic - diagnosis
Anemia, Hemolytic, Congenital Nonspherocytic - surgery
Blood transfusions
Children
Cord blood
Erythrocytes
Erythrocytes - cytology
Female
Fetal Blood - cytology
Hematopoietic Stem Cell Transplantation - methods
Hemochromatosis
Hemoglobin
Hemolytic anemia
Histocompatibility antigen HLA
Humans
Infant
Kinases
Liver
Pediatrics
Pyruvate kinase
Pyruvate Kinase - blood
Pyruvate Kinase - deficiency
pyruvate kinase‐liver and RBC
Pyruvate Metabolism, Inborn Errors - blood
Pyruvate Metabolism, Inborn Errors - diagnosis
Pyruvate Metabolism, Inborn Errors - surgery
Pyruvic acid
Transfusion
Transplantation
Transplants & implants
Umbilical cord
Unrelated cord blood transplantation
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Summary: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.
ISSN:1328-8067
1442-200X
DOI:10.1111/ped.12889