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 bog who der eloped neonatal jaundice and sever e transfusion-dependent hemolytic anemia a few months after birth. He recei ved a BMT at the age of 5 from an HLA-identical sister who has normal PK ac tivity after conditioning with busulfan and cyclophosphamide, The post-tran splant course was uneventful, At present, 3 Sears after transplant, he is 8 Sears old and has a normal hemoglobin level and normal RBC PK activity wit hout evidence of hemolysis, DNA analysis has confirmed full engraftment.