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.
Tanphaichitr
V S
VS
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Suvatte
V
V
Issaragrisil
S
S
Mahasandana
C
C
Veerakul
G
G
Chongkolwatana
V
V
Waiyawuth
W
W
Ideguchi
H
H
D000743:Anemia, Hemolytic / Q000201:enzymology / Q000628:therapy; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology / Q000628:therapy; D008297:Male; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency*
D011770:Pyruvate Kinase