Dunhua Zhou

Umbilical cord blood transplantation in Chinese children with beta-thalassemia.

To evaluate factors affecting outcome of sibling umbilical cord blood transplantation in Chinese children with thalassemia. The authors conducted a retrospective review of all patients undergoing such transplants in a single institution. Nine children with thalassemia major were diagnosed at a median age of 12 months. They received irregular blood transfusions and suboptimal iron chelation therapy before transplant. Sibling cord blood transplant was performed at a median of 5.5 years (range 3.5–10 years). Six donors were HLA-identical; three were one- to three-antigen mismatched. The mean number of nucleated cells infused was 6.6 × 107/kg (range 3.4–12.7); the mean number of CD34+ cells infused was 3.8 × 105/kg (range 0.6–11.7). Seven patients had engraftment of donor cells. The median number of days to achieve a neutrophil count of >0.5 × 109/L was 19 days (range 10–25); the median number of days to achieve a platelet count of >20 × 109/L was 33 days (range 19–63). Of the six patients who received HLA-identical transplants, one developed grade 2 and two developed grade 1 acute graft-versus-host disease. Two of the three patients receiving mismatched cord blood did not achieve engraftment, and the other one engrafted but developed grade 4 acute graft-versus-host disease. Two patients subsequently developed secondary graft rejection and had autologous marrow regeneration before day 60 posttransplantation. With a median follow-up of 49 months (range 38–64), eight patients survived but only four were transfusion-independent. Umbilical cord blood transplant appears to have a higher chance of nonengraftment and secondary rejection. A more intensive immunosuppressive conditioning regimen may be required.

Unrelated Umbilical Cord Blood Transplant for β‐thalassemia Major

A 5-year-old boy with beta-thalassemia major received an unrelated umbilical cord blood transplantation (URD-UCBT). The URD-UCB was six antigen HLA matched. The infused cell dose was 7.5 x 10(7)/kg nucleated cells. Conditioning included busulfan 20 mg/kg, cyclophosphamide 200 mg/kg, fludarabine 150 mg/kg, thiotepa 6 mg/kg, and antithymocyte globulin 90 mg/kg. The post transplant complications were mild hepatic veno-occlusive disease, acute GVHD grade III, and CMV interstitial pneumonia. The subject has been ex-thalassemic for more than 20 months post transplant. The chronic GVHD was limited and could be controlled by methylprednisolone combined with mycophenolate. This is the first successful report of an unrelated umbilical cord blood transplantation for beta-thalassemia major from China.

Rituximab combined with autologous peripheral blood stem cell transplantation improve therapeutic effects of chemotherapy in pediatric patients with Burkitt's lymphoma.

We report on 2 children with Burkitts lymphoma accompanied by extensive extranodal involvement treated with chemotherapy and Rituximab in combination with autologous peripheral blood stem cell transplantation (Auto-PBSCT) regimens. No obvious side effects could be seen during the Rituximab therapy. Both children achieved complete remission with no relapse after being followed up for 4.3 and 4 years, respectively. Our limited experience show that Rituximab in combination with chemotherapy and Auto-PBSCT might have better therapeutic effects on Burkitts lymphoma of children and the side effects of Rituximab therapy is minimal and can be well tolerated.

Allogeneic peripheral blood stem cell transplantation in β-thalassemia

Six transfusion-dependent g -thalassemia major patients were treated with allogeneic peripheral blood stem cell (PBSC) transplant. The donors were HLA identical siblings except one donor who was a father with one-antigen mismatch of HLA-B loci. The donors were mobilized with G-CSF and PBSC was infused without manipulation. Engraftment was documented in all patients. Acute graft versus host disease (GvHD) was present in 4 patients but could be controlled with steroid or/and ATG. One patient died of hepatic veno-occlusive disease (HVOD) and survivors were all transfusion independent (ex-thalassemia). Chronic GvHD occurred in one patient. Allogeneic PBSC transplantation could achieve disease-free survival in g -thalassemia major patients.

Modified conditioning regimen improves outcomes of unrelated donor peripheral blood stem cell transplantation for β-thalassaemia major patients

The objective of this study was to evaluate the feasibility of a modified conditioning regimen for the treatment of patients with β‐thalassaemia major (TM), using unrelated donor peripheral blood stem cell transplantation (UD‐PBSCT).

X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis

ABSTRACT X-linked hyper-immunoglobulin M (IgM) syndrome is characterized by recurrent infections, low or undetectable levels of IgG and IgA, and normal to increased serum IgM, and is also rare. It is associated with mutation in the gene encoding CD40 ligand. This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohns disease and hemophagocytic lymphohistiocytosis. Also, the clinical implications of this mutation and associated atypical phenotype are discussed.