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Children with thalassaemia need to undergo continuous blood transfusion every month. Inadequate treatments will lead to several complications and death at an early age. With costly and burdensome treatments, ignorance is absolutely not a bliss. Although patients with thalassaemia major can lead a decent life with proper treatments, preventing the occurrence of the blood disorder is definitely better than cure.
Dr Anne Yeoh Chiou Yen, a consultant paediatrician at Sri Kota Specialist Medical Centre, Klang says the best way is for soon-to-wed couples to undergo thalassaemia screening. She says when both partners are carriers, there is a 25 per cent chance of having a thalassaemia major child, a 50 per cent chance of having a thalassaemia minor and a 25 per cent chance of having a normal child. And if only one of the couple is a carrier, there is a 50 per cent chance of having a carrier and a 50 per cent chance of having a normal child.
“Considering all the possibilities, couples are encouraged to go for a premarital screening as a precaution. A genetic counseling might be offered if they are tested for thalassaemia. An antenatal diagnosis of the disorder is also possible during 8-10 weeks of pregnancy,” she says. The precaution may help couples to make informed and realistic decisions about their future, particularly their unborn.
For instance, if a couple is at risk of having a baby affected by thalassaemia, they may choose to conceive using preimplantation genetic diagnosis to make sure that only healthy embryos are implanted as part of in vitro fertilisation (www.babycenter.com).
By Dr. Anne Yeoh Chiou Yen, Consultant Paediatrician