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THALASSEMIA is an inherited autosomal resessive blood disease. In thalassemia, the genetic defect which could be either mutations or deletion results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis or no synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.

Some of the questions on Thalassemia and answers :

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.

Bone Marrow Transplantation(BMT) is the only definitive cure for Thalassemia but it has its risks. These risks depend mostly on availability of a compatible family donor, generally a sibling, and the age and heath of your child at the time of transplant. It consists of replacing your child’s faulty bone marrow stem cells, from which red cells originate, with those obtained from a healthy compatible donor.

What is the success rate of Bone Marrow Transplantation (BMT) for Thalassemia?

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).

What is the cost of Bone Marrow Transplantation (BMT) for Thalassemia?

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.

When did Bone Marrow Transplantation (BMT) for Thalassemia start and how many transplants have been done?

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.

What are the side effects of Bone Marrow Transplantation (BMT) for Thalassemia?

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.

How long must the child stay in hospital after the Bone Marrow Transplantation (BMT) for Thalassemia?

On average a BMT requires a hospital stay of 1.5 to 2 months.

How long does it take to become transfusion independent after the Bone Marrow Transplantation (BMT) for Thalassemia?

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.

When should Bone Marrow Transplantation (BMT) be performed?

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

How can Cure2Children help me to be cured from Thalassemia through Bone Marrow Transplantation (BMT)?

Send us an email and our experts will answer your questions and will give you free advice.

What is the best iron-removing treatment?

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.

The yearly cost of appropriate chelation therapy is variable, but generally more 5,000 USD. In developing countries the main problem remains access to adequate care and cost of drugs which is well above the average income. Without access to regular chelation therapy and medical follow up, the majority of children with thalassemia do not reach the age of 20. Some centres may provide subsidized drugs and care.

We would like to consider Bone Marrow Transplantation (BMT) but have no other children.

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.

Gene therapy, although significant progress has been made, will not be routinely available for at least some years, maybe another decade.

If no sibling is available you should provide your child with optimal care and wait for less risky alternative transplant modalities or gene therapy.

Which treatment is best, cord blood or bone marrow?

Best results and most experience are 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.

I have heard that the mother may donate stem cells that could cure my child.

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.

Should an unrelated marrow donor search be initiated anyway if my child has no related donor?

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).

What are the risks for donors & how bone marrow is collected from donor?

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.

What is the appropiate age of donor for donating marrow? (1- 50 years?)

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.

By which test do we check the availability of compatible donor for patient (By blood test or by test on bone marrow)

Compatibility is tested on blood and is independent of blood type. Donor and recipient can have different blood types and still be histocompatible.

If I am coming from other city for BMT, how long I have to stay near hospital?

It depends on what medical support you can rely on in your area, but is generally between 3 to 8 months.

I have a thalassemic child with match sibling but is Hepatitis C positive; can they be treated by Bone Marrow transplantation? If yes, what will be the risks?

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.