A baby with severe beta thalassemia major cured by allogeneic stem cell transplantation using reduced intensity conditioning
The patient shown above underwent allogeneic stem cell transplantation to treat severe beta thalassemia major. This is an otherwise incurable genetic blood disorder caused by an abnormal production of red blood cells, resulting from genetically-abnormal hematopoietic stem cells.
Patients born with this disease depend on frequent blood transfusions. Eventually, many suffer from deformities due to the unsuccessful attempt of hematopoietic cells located in the bone marrow to generate more red blood cells. These cells survive for a very short time, and cause many secondary cardio-vascular or other complications.
Complete cure can only be accomplished through an early stem cell transplant from a normal donor, before secondary complications occur. This infant was lucky to show up for treatment at the age of 2.
The transplant procedure was accomplished thanks to her fully-compatible brother. The principle of reduced intensity conditioning in preparation for stem cell transplantation was based on the same concept suggesting that sufficient immunosuppression for prevention of rejection of donor stem cells will result in durable engraftment of normal donor’s hematopoietic stem cells and then alloreactive donor lymphocytes could complete elimination of all residuals genetically abnormal stem cells post-grafting.
The principle of graft-vs-genetically abnormal stem cells with replacement of abnormal host’s with normal donor’s stem cells using NST was also successfully accomplished for treatment of a long list of other genetic diseases that could only be cured by a successful allogeneic stem cell transplantation.