Bone Marrow Transplantation. Vol.26, No.6 (2000), 689-690
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V. S. Tanphaichitr, V. Suvatte, S. Issaragrisil, C. Mahasandana, G. Veerakul, V. Chongkolwatana, W. Waiyawuth, H. Ideguchi Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplantation. Vol.26, No.6 (2000), 689-690. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26154
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Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency
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.