FAQ How to be Thalassemia-free with Bone Marrow Transplantation (BMT)
The answers have been prepared by
- Dr. Lawrence Faulkner, Cure2Children Scientific Coordinator
- Dr. Pietro Sodani, Consultant Hematologist and BMT expert, member of the Cure2Children Advisory Board
- Dr. Sadaf Khalid, Cure2Children Pakistan Branch Coordinator
I have a young child with Thalassemia, he needs monthly blood transfusions, is a cure available?
Supportive care with regular transfusions and appropriate medical follow-up will not cure your child, but may allow your child to live up to 40 or 50 years with a good quality of life. The main issue is access to appropriate supportive care. It is particularly important to assure safe blood, preferably not from family members but from volunteer donors. Pre-transfusion hemoglobin should be kept above 9 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 centre 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.
In low-risk cases (less than 10 years of age, having regular chelation therapy, non liver enlargement and no transfusion-associated diseases like hepatitis or HIV), BMT provides a 80-90% cure probability, with 5% mortality rate and a 10% chance of rejection (thus leaving the child thalassemic).
The cost of transplant varies and may range from 150,000 USD in western countries to 15,000 USD in centres in developing countries, with similar results in low-risk cases.
BMT for Thalassemia has been successfully performed for almost 30 years in a total of more than 2,000 patients worldwide, 1,500 of which have been performed by Professor Lucarelli (a member of the Cure2Children Advisory Board) and his team in Italy.
BMT cannot currently be administered without very high chances of permanent infertility, as opposed to supportive care which may allow the possibility of having children. This may change with time.
On average a BMT requires a hospital stay of 1.5 to 2 months.
Most children become transfusion-independent within a month from the transplant. Late rejections and transplant-related complications, however, may occur and regular check up should be carried out at least for the first year following the BMT.
As soon as possible, especially if appropriate chelation or safe blood products are not guaranteed. In the best possible situation, however, a transplant can be safely postponed to 6-8 years of age.
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In general the iron accumulating from multiple transfusions can be removed from the body quite effectively with chelation therapy which employs drugs like deferoxamine (Desferal), deferiprone (Ferriprox or Kelfer) or desferasirox (Asunra or Exjade). All these drugs may have significant side effects.
Mother, father and first degree relatives could be matched, especially if the parents are related, and it might be worthwhile evaluating by HLA typing.
If you are considering having more children keep in mind that the risk of having a child with Thalassemia is 25%, and the chance of having a matched healthy sibling is slightly less. There is a 50% chance that your new child will be a Thalassemia carrier like you, however this is not a contraindication to donating bone marrow. Prenatal diagnosis by chorionic villus sampling, which is commonly performed in most countries, can rule out Thalassemia and establish if the embryo is HLA matched early during pregnancy, generally by the 12-13th week. See also preimplantation diagnosis.
Other options like transplantation from unrelated marrow donor registries, cord blood banks or from a partially matched family member (generally the mother) have been performed successfully but are currently quite expensive and risky. In the context of an effective supportive care alternative, they should probably be considered if transfusions and/or drugs cannot be tolerated or are not accessible.
Best results and most experience is with standard bone marrow transplantation. For Thalassemia there is no strong evidence that cord blood is superior to bone marrow. Thus cord blood collection and storage from a healthy newborn sibling is not considered an absolute requirement. Bone marrow collection can be safely performed on the healthy matched sibling as early as 6 months of life.
Transplant from mother (called Haploidentical Transplant), currently has a success rate in the range of 50% and a 20% mortality risk, these results, however, may improve with time. The cost is around 200,000 USD in western countries and should still be considered as a non-standard procedure.
Transplantation form unrelated donors (bone marrow or cord blood) in Thalassemia generally requires extended compatibility and thus the chances of finding a suitable unrelated donor are not very high especially if the ethnic background is underrepresented in bone marrow donor registries. Unrelated transplant is more risky (and much more expensive).
Generally there is no risk to donor even if he/she is Thalassemia minor and bone marrow collected from him/her is replaced by their body without any pain. Bone marrow from donor is collected under general anesthesia from upper part of hip bone.
For related bone marrow donation (generally from a brother or a sister) there is really no age limit, a bone marrow harvest can be safely performed between 6 months and 60, years of age if the donor is in good health. It is only for unrelated (donor registries) bone marrow donation that the age limit is much narrower, generally between age 20 and 40.
Compatibility is tested on blood and is independent of blood type. Donor and recipient can have differetent blood types and still be histocompatible.
It depends on what medical support you can rely on in your area, but is generally between 3 to 8 months.
Unfortunately many children in poor countries still get Hepatitis C virus (HCV) from multiple transfusions, however, bone marrow transplant outcome is not influenced by this infection. Actually BMT may be even more indicated because HCV worsen liver damage due to iron overload. Hepatitis C, if still active two years after transplant, should be treated and followed closely.
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Thanks armouris for sharing....
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