Objective: To examine the feasibility of bone marrow hematopoietic stem cell transplantation for thalassemia major.
Methods: Bone marrow transplantation was performed on a 4-year-old patient with beta-thalassemia major, whose gene mutation was CD41-42/654. The donor was his brother. In the 850ml bone marrow, the nucleated cells were 5.6x10(8)/kg, CD(+)(34) cells 7.8 x 10(6)/kg, and colony-forming-unit-granulocyte-macrophages(CFU-GM) 5.7x10(5)/kg. HLA was one site mismatched, while RBC type matched. Pre-transplant conditions included Busulfan 16mg/kg, cyclophosphamide 200mg/kg and lymphoglobuline 88mg/kg. Cyclosporine and methotrexate were used for prevention of graft-versus-host disease(GVHD).
Results: After transplantation, the patient had grade II acute GVHD and cytomegalovirus(CMV) interstitial pneumonia; he was cured. White blood cells(WBC) and neutrophil granulocytes recovered to 1.1 x 10(9)/L and 0.4 x10(9)/L respectively on day 14 post transplantation. WBC was 4.5 x 10(9)/L on day 18, and descended for a time during treating interstitial pneumonia with Ganciclovir. Platelet(Plt) exceeded 50 x 10(9)/L on day 86 and recovered to normal 5 mothers and a half post transplantation. Hb reached 106g/L on day 128. The patient received the last blood transfusion on day 103. Before transplantation, the patient had to receive 200ml blood infusion per month for maintaining Hb 60-90g/L; after transplantation, his Hb kept up >110g/L for 6 months without blood transfusion. The gene type had changed to donor's CD41-42/N heterozygen.
Conclusion: This is the first report on successful transplantation of bone marrow stem cell for thalassemia major in China, suggesting a new way to treat the disease and to expand the use of BMT. For treatment of CMV interstitial pneumonia post-transplantation, Ganciclovir should be dose enough and be used for at least 2 months.