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Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency

Abstract

We report the first successful use of BMT for the treatment of RBC pyruvate kinase (PK) deficiency in a boy who developed neonatal jaundice and severe transfusion-dependent hemolytic anemia a few months after birth. He received a BMT at the age of 5 from an HLA-identical sister who has normal PK activity after conditioning with busulfan and cyclophosphamide. The post-transplant course was uneventful. At present, 3 years after transplant, he is 8 years old and has a normal hemoglobin level and normal RBC PK activity without evidence of hemolysis. DNA analysis has confirmed full engraftment. Bone Marrow Transplantation (2000) 26, 689–690.

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Tanphaichitr, V., Suvatte, V., Issaragrisil, S. et al. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant 26, 689–690 (2000). https://doi.org/10.1038/sj.bmt.1702576

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  • DOI: https://doi.org/10.1038/sj.bmt.1702576

Keywords

  • BMT
  • PK deficiency
  • pyruvate kinase
  • stem cell transplantation
  • DNA-short tandem repeat markers
  • enzymopathies

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