ABSTRACT
Dyskeratosis congenita is recognized by its dermal lesions and constitutional aplastic anemia in some cases. We report successful allogeneic bone marrow transplantation in two siblings with this disease from their sister, and their long term follow-up. We used reduced doses of cyclophosphamide and busulfan for conditioning instead of total body irradiation. Also, we report late adverse effects of transplantation which are not distinguishable from the natural course of disease.
Subject(s)
Anemia, Aplastic/therapy , Bone Marrow Transplantation , Dyskeratosis Congenita/complications , Adolescent , Adult , Anemia, Aplastic/etiology , Bone Marrow Transplantation/adverse effects , Busulfan , Chronic Disease , Cyclophosphamide , Diagnosis, Differential , Disease Progression , Dyskeratosis Congenita/genetics , Erythema/etiology , Esophageal Stenosis/etiology , Female , Follow-Up Studies , Graft vs Host Disease/diagnosis , Graft vs Host Disease/etiology , Humans , Immunosuppressive Agents/therapeutic use , Male , Nuclear Family , Tissue Donors , Transplantation Conditioning , Transplantation, HomologousABSTRACT
This study concerns the effects of several pre-transplant features on outcome for patients with beta thalassemia major who underwent bone marrow transplantation (BMT). Seventy patients with beta thalassemia major underwent bone marrow transplantation during the period 1991-1997 in Shariati Hospital in Tehran, Iran. The survival and rejection curves levelled off at 8 and 18 months after transplantation at 82.6% and 11.4%, respectively. Pre-transplant clinical features (age, serum ferritin, portal fibrosis, hepatomegaly and quality of chelation therapy) were examined for their effects on survival and recurrence of thalassemia in this group of patients who were less than 16 years old. Increasing age, presence of portal fibrosis and increasing serum ferritin were significantly associated with reduced probability of survival (P = 0.0047, P = 0.016 and P = 0.024, respectively). Hepatomegaly and inadequate pre-transplant chelation therapy which were documented as poor prognostic factors in previous studies, were not evaluable in this study. We also showed the benefits of transplanting more than 5.5 x 10(8)/kg cells in this group of patients with no increase in complications.