Vs. Tanphaichitr et al., Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency, BONE MAR TR, 26(6), 2000, pp. 689-690
Citations number
13
Categorie Soggetti
Hematology,"Medical Research Diagnosis & Treatment
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.