Five Years Post Allogenic Transplantation and Seven Years Post Preplantaimtion eGnetic Diagnosis for ?-Thalassaemia Major Combined with HLA Matching - Abstract
Seven years follow-up after the birth of a healthy infant, who became a bone marrow donor two years after delivery to his sick sibling, after successful preimplantation genetic diagnosis (PGD) testing by both cleavage stage and blastocyst biopsy for the purpose of diagnosis of ?-thalassaemia and HLA compatibility has been described in the present case report.
Since allogenic hematopoietic stem cell transplantation (HSCT) is the only cure available for Beta-Thalassemia. However there is a limited possibility of finding human leukocyte antigen (HLA) matched donor, among relatives. HSCT from a HLA identical sibling provides the best treatment option which reduces the incidence of graft rejection and other serious complications associated with transplantation and the major part of these cases can be cured successfully.
Here, we present a successful pregnancy achieved after PGD for ?-Thalassaemia combined with HLA typing in a family with ?-thalassemia major carrier ship. A healthy girl with HLA compatibility with his affected brother was born in term and umbilical cord blood of the baby was frozen after delivery for
possible future treatment. Two years after delivery the transplantation of bone marrow has been accomplished after complete immune suppression of the affected brother (5 years old). Another five years post allogenic transplantation two siblings are healthy and without complications in their development. Treatment and transfusions of the affected child were no longer needed. Being the first case in Bulgaria, this success demonstrates the feasibility of international collaboration for application of sophisticated techniques in different specialized hospitals and clinics.