Thalassemia 地中海贫血症 - Something We Should know As a Parent in SEA

I’ve always wanted to share this information since long time ago but somehow I’ve dragged until now. If you are Live Lite FM & Melody FM supporter, you should have heard about it too sometimes ago from the advert, a disease called Thalassemia 地中海贫血症.

Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with Thalassemia make less hemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia.

There are 3 types of Thalassemia: Alpha, Beta and Delta. Thalassemia is very common in South East Asia including Malaysia. According to a government report, 1 out of 8 Malaysian Chinese is a Thalassemia carrier. If husband and wife are Thalassemia carrier, they could Inherited it to their children. So, I think it’s important to know this when you are married and expecting a child.

We could have a normal baby in 25% chance, and a Thalassemia carrier’s baby with 50% chance, and worst case scenario a Thalassemia Major 25%.

Thalassemia carriers is not a major disease, we would be getting tired easily because of blood disorder. Other than this, we are just as normal as others.

I am here to share my experience as me and hubby is both Alpha Thalassemia carriers. We knew this when we did the DNA test few years back. We both are strongly disagreeing to a HK TVB drama recently, that a couple cancelled their wedding because they are both Thalassemia carriers and CANNOT have a child! It is rather misleading. In fact, we COULD have child, and Not Only One, we can have many many childs.

Though I agree that we could not predict if the fetus is infected by Major Thalassemia before conceive, but we could prevent from suffer by doing Chorionic Villous Sampling(CVS) test.

CVS is usually performed at 10 to 12 weeks of pregnancy. In Malaysia, CVS is commonly done for women with the risk of having a baby with alpha or beta Thalassaemia major. These are blood disorders, which can severely affect the baby.

Although CVS can detect many of the same congenital problems earlier in the pregnancy, it carries a 1% to 2% risk of miscarriage. Bed rest is a must after CVS, and I usually bed rest for a week to make sure I’m fully recover.

I’ve done my CVS tests at Fetal Medicine and Gynaecology Centre (FMGC) by Doctor Patrick Chia. FMCG used to situated at Taman Tun but they have shifted to Jaya One few years back.

There are two ways to perform CVS: through the abdomen, trans-abdominal CVS or through the cervix (neck of the womb). Dr Patrick normally did it through my abdomen. It was a bit pain but don’t worry, just relax and the procedure will be done in less than 30 minutes. If you are curious on how to do it, ask for my video documentation from Doctor Patrick, he has recorded my procedure using his iPhone last year but I forgot to get a soft copy from him hence couldn’t share with you here.

We paid RM 1850 for CVS tests since year 2008 till last year, and if you want to do a further down syndrome test and confirmation on the sex of fetus, it would cost RM 500 extra. Report normally is out in a week time, and Doctor Patrick will call to tell you the result.

If you want to pay a visit to FMGC, do make an appointment in advance because FMCG is always crowded with patients.

FMGC website http://www.fmgc.com.my/

If the result is showing that the fetus is unfortunately a Major Thalassaemia, then it’s time the parents to make a decision. In many cases, the doctor would not advice patient to raise the baby to prevent suffering. As an adult, I think we should accept the fact and make a wise decision. I have relatives who have not do the CVS test and their babies died on birth. This is rather sad to me. It’s a painful path in our life but that’s what makes us a better parent to our precious children.

I hope this article would help you, who are a Thalassaemia carrier like us. Don’t give up and you will get what is gifted to you at last!

1 comment:

saltvinegar said...

Great tht u shared your experience to aid other parents. Alpha thal is very common in the Chinese population. However the percentage u described is only true if both parents are beta thal traits. For alpha thal it depends on how many gene deletions each parent have. If each of u only have one gene deletion then there is no need for CVS since the worst ur baby can have is a 2 gene deletion whereby she will be mainly asymptomatic. Only a baby having 4 gene deletions will result in hydrops fetalis. My friends mother has 3 gene deletions and she is mostly asymptomatic

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