Josu de la Fuente completed his general training in paediatrics in different hospitals in London and following membership of the Royal College of Paediatrics and Child Health, he trained in haematology at Imperial College and Great Ormond Street Hospital achieving membership of the Royal College of Pathologists.
During this time he developed an interest in red cell disorders, bone marrow failure and transplantation. After a period of research in human fetal haemopoiesis as an MRC Clinical Research Fellow leading to a PhD, he was appointed to lead the paediatric BMT programme at Imperial College Healthcare, which specialises in transplantation for haemoglobinopathies and bone marrow failure.
Abstract: Bone Marrow Transplantation in Children
Bone marrow transplant for sickle cell disease is feasible and offers a long-term cure. The experience gained in the last twenty years has led to the identification of factors determining outcomes and complications, allowing for protocols to be refined and patients previously excluded because of the severity of cerebrovascular disease to be included. As sickle cell disease is a very heterogeneous disease clearly defined indications have been developed, which include repeated vaso-occlusive crises or acute chest syndrome not responding to hydroxycarbamide and cerebrovascular disease.
A better understanding of the natural history of the disease, morbidity and end-organ damage will identify other patients who may benefit. There is initial evidence identifying those patients in which cerebrovascular disease can be reversed. Related bone marrow transplantation in experienced centres can offer a disease-free survival in the region of 95% with a transplant relayed mortality of <5%. This has to be balanced with the late effects caused, of which infertility is the most important and different approaches are being developed to address this. The main challenge is to extend the number of patients who may benefit from transplantation as the number of patients who have a related donor free from sickle cell disease is limited.
Unrelated bone marrow transplantation is becoming a reality, but it is limited by the availability of donors, whereas unrelated cord transplantation has a high rejection rate. Hence, novel approaches are required.