BMT consists of replacing your child’s faulty bone marrow stem cells, from which red cells originate, with those obtained from a healthy compatible donor. It is more a medical than surgical procedure and cosists of a preparation phase generally lasting 1 to 3 weeks i which chemotherapeutic drugs are administered to get rid of the diseases bone marrow and suppress the immune system to avoid rejection. Than marrow is collected form the donor in the operating theater and infused in the patient on the same day. The recovery phase takes 6 monyhs to a year of which the first 3.4 weeks are spent in the hospital.
How effective is BMT and what are the risks?
BMT outcomes have constantly improved to the point that, in experienced centers, children with a compatible family member can currently expect high cure rates, for diseases like thalassemia, sickle cell disease or aplastic anemia, in the 80-90% range cure with normalization of health-related quality of life. There is, however, a risk of dying from complications in the 5% range and another 5% risk that the transplant will be rejected. Post-BMT your child also has a small risk of developing a complication called Graft versus Host Disease (GVHD). in the 5% range, which has different degrees of severity but in most cases it will resolve even if it may take a few years. The most important long-lasting side effect of BMT is loss of fertility which, on average, may occur in 50% of cases.
How can I see if my child has a compatible donor in the family?
HLA-typing is the test required to identify a compatible family donor, generally a brother or sister and more rarely mother or father. HLA-typing can be performed in most countries, costs and reliability however are quite variable. We recommend to do high-resolution sequence-based typing of HLA A, B, C, DRB1, DQB1 and DPB1 (see reference). This top-level HLA-typing is offered free-of-cost by Cure2Children thanks to DKMS-Germany (see Services).
What is the cost of BMT?
BMT is one of the most expensive treatments and its cost varies widely, ranging from 200,000-500,000 USD in western countries to 30,000-40,000 USD in India. However, Cure2Children has been able to bring down that cost to less than 15,000 USD for compatible sibilino BMT and 25,000 USD for partially compatible familial (haploidentical) BMT including all medical expenses and follow up costs. In fact, it is very important to have a clear idea on what is covered by quieted prices, e.g. only initial hospital stay, up to 45 days post-BMT? Some complication may occur after the initial period and be very costly.
In case we do not have a compatible sibling what are the options?
Mother, father, and first-degree relatives could be matches, especially if the parents are related. However, while outcomes using a fully compatible mother or sibling are comparable, it is not clear if using a compatible father or non-immediate relative is better than using a partially compatible (haploidentical) mother (see reference). In fact, there is evidence that a haploidentical BMT, that is from a partially compatible family member, might be as good as that from a fully matched sibling. Haploidentical BMT, in general, is also preferable (and less expensive) than using unrelated donors, cord blood banks or seeking further pregnancies to deliver a healthy matched sibling.
What is the preferable stem cell source for transplantation?
Best results and most experience is with standard Bone Marrow Transplantation. Peripheral Blood Stem cells (PBSC) obtained with an apheresisi machine, may improve engraftment but also cause more GVHD, Especially in diseases like thalassemia, sickle dell or aplastic anemia, PBSC should be avoided. Cord blood is being abandoned, collection and storage from a healthy newborn sibling is not recommended. Bone marrow collection can be safely performed on the healthy matched sibling as early as 6 months of life.
Any risks for bone marrow donors?
Generally there is no risk to donor other than the anesthesia, even if he/she is a thalassemia carrier. Bone marrow is collected under general anesthesia from theb upper part of hip bones. The collected bone marrow is replaced very quickly with no consequences for the donor..
I have a young child with thalassemia who needs monthly blood transfusions is a cure available for him?
Supportive care with monthly blood transfusions and appropriate medical follow-up will not cure your child, but if followed precisely, may allow your child to live up to 40 or 50 years of age with a good quality of life. In fact, in the Indian subcontinent, the average life duration of a person with thalassemia receiving regular care has been estimated to be in the range of 30 years (see reference). Bone Marrow Transplantation (BMT) is the only established definitive cure for thalassemia.
What does supportive care for thalassemia consist in?
t is particularly important to assure safe blood, preferably not from family members but from volunteer donors. Pre-transfusion hemoglobin should be kept above 9 -10 g/dL. After the initial 15-20 transfusions, iron from transfused red cells starts to accumulate and may cause harm to your child’s body, especially the heart and liver. This iron build-up is evaluated by measuring ferritin blood levels. When ferritin levels rise above 1,000 ng/mL its time to start iron-removing (chelation) therapy. Your child should be followed by a thalassemia center where the doctors will be able to advise you about supportive care and the different tests needed to assure that he or she will remains as healthy as possible.
When should BMT be performed?
Bone Marrow Transplantation should be done as soon as possible, while the child is still young. In the best possible situation, however, a transplant can be safely postponed to 6-8 years of age. It should definitely be done before 15 years of age to have a possibility to preserve fertility.
What about gene therapy?
Gene therapy will eventually replace BMT but its efficacy and long-term side effects are not established as its ability to fully correct the gene defect in thalassemia major. The cost of gene therapy is currently prohibitive, i.e. in the million dolar range.
I would like to have more children but am afraid to have another one with thalassemia, how can I avoid it?
In general we discourage families to plan for another kid purely with the intention of finding a donor for the child suffering from thalassemia. Do keep in mind that the chance of a match with a sibling is only 25%. If you want to have a another child irrespective of whether the next child is a match, you must get screening done in the first 12 weeks of pregnancy. Prenatal diagnosis of thalassemia is relatively straight forward by Chorionic Villus Sampling or CVS. Biomedical technology also allows to select and implant an embryo which is thalassemia-free and HLA-compatible, this is called Preimplantation Genetic Diagnosis or PGD.
I have a child with sickle cell disease, is a definitive cure available?
Yes, bone marrow transplantation (BMT) is the only established definitive cure and can be done at all ages, preferably in young children, before any major complication occurs. see BMT FAQ section.
How can I keep my child with SCD as healthy as possible?
Your child should be followed by a center experienced in the care of SCD. In general, SCD can be quite variable in severity and most children will be started on hydroxyurea as young as 9 months of age. Some indicators like early complications such as dactilitis (hand swelling) or frequent pain crises, or low hemoglobin or increased transcranial Doppler velocitiy (TCD) may indicate that BMT should be considered. Penicillin prophylaxis is also very important.