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Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency
V S Tanphaichitr1, V Suvatte, S Issaragrisil
1Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Insights
Bone marrow transplant (BMT) successfully treated a boy with red blood cell (RBC) pyruvate kinase deficiency. This treatment resolved severe hemolytic anemia, normalizing hemoglobin and PK activity.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Red blood cell (RBC) pyruvate kinase (PK) deficiency is a genetic disorder causing hemolytic anemia.
- Severe cases require frequent blood transfusions, impacting quality of life.
Observation:
- A 5-year-old boy presented with neonatal jaundice and severe transfusion-dependent hemolytic anemia due to PK deficiency.
- He received a bone marrow transplant (BMT) from an HLA-identical sibling.
Findings:
- The patient underwent conditioning with busulfan and cyclophosphamide prior to BMT.
- Post-transplant, the patient experienced an uneventful recovery.
- Three years post-BMT, the patient exhibits normal hemoglobin levels, normal RBC PK activity, and no signs of hemolysis, with confirmed full engraftment.
Implications:
- BMT is a viable curative treatment for severe red blood cell pyruvate kinase deficiency.
- This case highlights the potential of gene therapy for inherited red blood cell disorders.
- Successful BMT offers a long-term solution, eliminating transfusion dependence and improving patient outcomes.
Abstract:
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.
