Allogeneic peripheral blood stem cells transplantation for treating a patient with β-thalassemia major

Objective To observe the efficacy and side effects of allogeneic peripheral blood stem cells transplantation (Allo-PBSCT) for the treatment of a patient with β-thalassemia major. Methods After conditioning with chemotherapy consisting of busulfan 20 mg/kg, cyclophosphamide 200 mg/kg, melphalan 90 mg/m2 and antithymocyte globulin (ATG) 90 mg/kg, the patient with β-thalassemia of double heterozygosities (mutation sites at CD17 and IVS-II-654) received 56 ml of PBSC which included 14.4 × 108/kg nucleated cells (NC) , 9.5 ×105/kg colony forming unit-granulocyte and macrophage (CFU-GM) and 14.9 × 106/kg CD34+ CD38- cells donated by the sibling with the identical HLA. Results The absolute nucleated cell (ANC) numbers reached 0.5 × 109/L 13days post-PBSCT. The platelet reached 20 × 109/L 40 days post-PBSCT. The donor's heterozygosity of CD17mutation site was only detected by the PCR-RDB at the 20th day. The karyotype changed to 46XY (donor type) from 46XX post transplantation. The hemoglobin of the patient was kept over 110g/L without red blood cells transfusion from the 20th day poet transplantation. Normal bone marrow cell morphology presented at the 100th day post-PBSCT. The patient's liver and spleen did not enlarge. The acute graft-versus-host disease (aGVHD) of 1°happened at the 16th day, and was controlled at the 26th day by treatments with methoprednisolone and prednisone. There was no chronic GVHD. The patient was free of the disease and survived for 475 days after Allo-PBSCT. Conclusion The results showed that Allo-PBSCT was successful in treating β-thalassemia major. This is the 1st report on treatment of β-thalassemia major with allo-PBSCT in China. Key words: beta-Thalassemia; Hemotopoietic stem cell transplantation