| Haematopoietic stem cell transplantation (HSCT) is the only curative treatment for thalassaemia major (TM) patients. Modern conventional therapy with safe transfusion and effective iron chelation can lead to prolonged survival in TM patients. It was aimed at studying the benefits of HSCT as compared with conventional treatment in Hong Kong Chinese children.;In the second part of study on BMT, it demonstrated that 86% of patients could be cured by BMT. A more immunosuppressive preparative regimen including anti-thymocyte globulin reduced graft rejection without increase in toxicity. Age and hepatic fibrosisckli/MD was found to be important prognostic factors. Monitoring the busulphan levels with adjustment of dosage during the preparative period might reduce the early mortality. The survivors were free from further blood transfusion and its related complications. Body iron could be reduced to a safe level by desferrioxamine or phlebotomy, complications such as cardiomyopathy were prevented. After transplant liver function and growth improved, diabetes mellitus and hypothyroidism was prevented. However ovarian failure was universal in girls due to busulphan toxicity. Immune function after transplant was normal in most aspects except lower natural killer cells and delayed response to vaccine. However TM patients on conventional treatment showed progressive decrease in natural killer cells and low T-helper cells with age.;In summary, HSCT can achieve cure for this severe hereditary disease and also improves the quality of life. If HLA identical sibling is available, BMT is the recommended treatment in young patients as they have excellent long-term disease-free survival, over 90%.;The first part of this study on non-transplant patients demonstrated that morbidity and mortality was still common due to poor compliance to chelation therapy. Patients were at risk of complications due to iron overload. Patients older than 10 years have higher chance of cardiomyopathy (19%) and diabetes mellitus (11%), delayed puberty was still common. Cardiomyopathy was the leading cause of death followed by infection. Patients received chelation therapy from young age had 90% chance of surviving up to 20 years. However impaired immunity and progressive liver diseases were common, and these abnormalities may become more important as these patients grow older. |
