Chances of having a child affected with Thalassaemia disease?

-When ONE of parent are carrier, children will have 50% chance of being CARRIER.
-When BOTH parents are carriers, children will have;
-25% chance of being Thalassaemia
-50% chance of being carrier
-25% chance of being normal
-Meaning that,when BOTH parents are CARRIERS, the chance of having Thalassaemia baby is 1 IN 4

The problem aries when teo people with the Thalassaemia trait have a child together. Each of them will pass on that half of the information containing the mistakes. If that happens the child will make red bloods cells that cannot carry enough oxygen and this child will have Thalassaemia.
Thus Thalassaemia only occurs in families in which both parent have the Thalassaemia trait. In sucj families, with every pregnancy, the chances that the baby will have Thalassaemia is ONE in FOUR. In other words, these parents can stillhave healthy babies, but with every pregnancy, they have a 25% risk that Thalassaemia will strike.

Without treatment, the part of the Thalassaemia patient’s body that makes red blood cells, that is, the bone marrow found inside the bone, becomes overactive. It makes more blood cells to cope with the body’s oxygen needs. This causes the bones to grow out of shape and become weak. Because of the poor quality of the patient’s blood, the heart and other orgens have to work much harder and thus become damaged over time. The patient’s skin looks pale and he or she may feel tired all the time.

Blood Transfusion
A Thalassaemia patients needs MONTHLY Blood Transfusion:
-to replace empty red blood cells with new healthy ones
-each time lasts about 4 to 6 hours

When the patient is given regular transfusion of blood, so that the body has enough healthy red blood cells to carry the oxygen it needs, the bone marrow can stop working so hard. The bones grow normally, the heart and other organs have less work to do, and the patient feels much better.
To have blood transfusions the child will have to go to a hospital or special clinic. Each transfusion lasts about 4-6 hours and this has to be done one monthly basis.
The patient required regular blood transfusion throughout his or her life. The blood transfusion, however, are complicated by a resulting build up of iron.

Blood contains iron, which stay in the body after the blood has been used up. As iron builds up in the body, it acts as a poison, damaging the heart, liver and other important organs. A drug called Desferal can prevent the iron build up by breaking down and removing the excess iron from the body.

The drug, Desferal, is administered by injection but this has to be done very slowly using a special kind of pump which runs for 6 to 7 hours. Most people set up the injection to run during the night, whilst the patient is sleeping.

With regular blood transfusions and a daily injection of Desferal a thalassaemic child can continue to live a normal life.

Desferal injection
DESFERAL can breakdown and remove excess iron from body:
• It is injected under the skin from a small pump
• It picks up excess iron and carries it out in the urine
• It runs for 6 to 7 hours, overnight

Bone marrow transplant (BMT) is an option available to the luckier thalassaemics. This is because in thalassaemia, transplant is only carried out if there is a compatible sibling donor available. The sibling who is to be the donor can either be normal or a carrier. This will then render the patient transfusion free if the transplant is successful. The high risk involved is possible death over failure.
In Sarawak
In Sarawak General Hospital, once a new thalassaemic is diagnosed, transplant workup is done if the patient has a normal or carrier siblings. Transplant workup entails a series of blood test both for the donor as well as the recipient to see whether they match. These blood tests are done free for the thalassaemia patients at the institute for Medical Research in Kuala Lumpur but there is a waiting list. (Note: courier charges for handling the blood tests are borne by the parents.)
Once the thalassaemia patient and the donor are deemed matched, they go onto the transplant list of the bone marrow center. Although they are on the list, priorities will be given to other rgent cases, such as leukemia patients. For our patients in Sarawak General Hospital, arrangements are usually made with Hospital Kuala Lumpur unless parents request otherwise. There are other centers available, including our neighboring Singapore but it is definitely more expensive.

Where to do BMT
In Malaysia, the Bone Marrow Transplant can be done at:
*Kindly note that the Bone Marrow Transplants at the above hospital are for Malaysian only.

How much does it cost?
A) Blood test to identify suitable donor:
-At UH, approx. RM 1,000
-At Singapore, approx. S$ 2,000
B) Bone Marrow Transplant at UH:
- RM 20,000 for 12 years old and under
-RM 40,000 for over 12 years old
Reported by Dr. Ong Gek Bee

When to do the transplant?
Transplant (if it is an option) is preferably performed early before the child receives too many transfusions or develop complications from iron overload. In an older child, the complicated associated with transplant increases and together with it increased morbidity and mortality.

In The beginning….
Once these patients are matched, parents will be counseled about the procedure and the risks involved.
At the same time, both patient and donor will have to have a series of blood tests and investigation done to make sure they are fit for the transplant. If the child is on desferal parents are informed that they have to optimize desferal use for best results.
A liver biopsy is also required to determine the iron load and also the class of risk associated with transplant.

Once there is a slot available, patient together with the parents and donor will be call too the centre. Bone marrow will be harvested from the donor as a backup. At the same sitting, a central line is inserted. This intravenous line is inserted into a big vein and requires a small operation under anesthesia, It is required as it facilitites the giving of chemotherapy, blood product, nutrition, antibiotics, etc, during the acute period post transplant.
About 3-5 days before transplant, some chemotherapy is given to deplete the recipient of its own marrow. After this, his blood count (red, white blood and clotting factors) would start to drop.

On the day of the transplant
On the day of transplant, the donor is put under anesthesia in the operation theatre and marrow is withdrawn. Once enough marrow is taken, the donor is brought back to the ward. The donor usuakky has no problem except for some pain and can usually be discharged by the second day with some paracetamol and vitamins.

The marrow taken is processed and infused into the recipient who remains in the ward like a blood transfusion.
If the donor is much older, sometimes stem cells (cells that are required to produce bone marrow) instead of bone marrow are taken from the donor like a blood donation after the donor is given some medication.
During the next 2-3 weeks while waiting for the new stem cells to produce all the blood cells, the patient can be quite sick.
Once the blood counts start recover, they become febrile and start taking well orally which is usually arouns the 3rd week, they are discharged to the halfway house if they are from out of Kuala Lumpur, They will continue to receive medication as an outpatient about 3 times a week till 2 months post transplant. They are initially reviewed about twice a week, then weekly till counts show a definite recovery trend. Usually, they can expect to be in Kuala Lumpur for about 2 months.
(Note: They might need Desferal for a short period post transplant depending on their liver biopsy and iron load)

Post transplant
They will continue to be on cyclosporin for about 6 months. Their immune system remains compromised.
We usually advise the patient to wear a mask for 6 months and to remain homebound. If they are school going, usually, they have to miss school during that period of time. Hygiene must be maintained and food usually home- cooked.
The child will need to be reimmunized approximately 1 year post transplant.

Sarawak Thalassaemia Society received some enquired on alternative treatment of Thalassaemia other than DESFERAL. We hope the following information given by our medical advisors will help those wanting to know.
And may these researches will bring a breakthrough in the treatment of Thalassaemia in the near future.


Useful Info   Primary Contact
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Badan Kebajikan Thallaesmia Malaysia ( BERKAT )

Pejabat Berkat Malaysia

6A & 6B, Jalan 6/4 Pandan Komesial Park Pandan Indah,55100 Kuala Lumpur
Tel : 03 4292 9660