V. S. TanphaichitrV. SuvatteS. IssaragrisilC. MahasandanaG. VeerakulV. ChongkolwatanaW. WaiyawuthH. IdeguchiMahidol UniversityFukuoka University2018-09-072018-09-072000-10-16Bone Marrow Transplantation. Vol.26, No.6 (2000), 689-690026833692-s2.0-0033804518https://repository.li.mahidol.ac.th/handle/20.500.14594/26154We 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.Mahidol UniversityMedicineArticleSCOPUS