Successful T Cell Replete Haploidentical Peripheral Blood Hematopoietic Stem Cell Transplantation in a Young Girl with Diamond Blackfan Anemia

Only curative therapy for DBA is haematopoietic stem cell transplantation (HSCT). Most published cases have used matched related and unrelated donor HSCT. We report a 5 years old girl who diagnosed with DBA at the age of 6 months and transfusion dependent. She underwent 5/10 human leucocyte antigen haploidentical mismatch related T cell replete HSCT utilizing a myeloablative conditioning regimen including intravenous busulfan (total dose of 12.8 mg/kg), fludarabine (total dose of 160mg/m2), thiotepa (10mg/kg single dose) and rabbit anti thymocyte globulin (ATG) (total dose of 6 mg/kg). Post-transplant cyclophosphamide on day+3 and +4 with tacrolimus and mycophenolate mofetil were used as GVHD prophylaxis. Her neutrophil engrafted on day+ 15. On day+78 she had steroid refractory grade III acute gut GVHD which was not responsive to adequate doses of etanercept, mesenchymal stem cells, basiliximab and infliximab also, but eventually it responded to equine ATG and oral methotrexate. Her immunosuppression was weaned off very slowly. At 23 months of follow up she had full donor chimerism with hemoglobin of 15.2g/dl, reticulocytes of 1% and complete immune reconstitution. Haploidentical HSCT could represent an effective option for cure in patient with DBA.