Beating the Odds of Thalassemia Through Genetic Testing

This couple from Jerantut, Pahang were finally blessed with an adorable child after 10 years of marriage.

During one of their follow-ups with our fertility specialist, both the husband and the wife had thalassemia traits, which is an inherited blood disorder where the body does not produce enough protein called haemoglobin. When there isn’t enough haemoglobin, the body’s red blood cells do not function properly and last for shorter periods of time, so there are fewer healthy red blood cells travelling in the bloodstream. When there are not enough healthy red blood cells, insufficient oxygen will be delivered to all the other cells of the body, which may cause a person to feel tired, weak, or experience shortness of breath. People with thalassemia may have mild or severe anaemia. In cases of severe anaemia, it may cause organ damage or even death.

If both parents have thalassemia traits, there is a 25% chance that their child might have severe anaemia, which may require regular blood transfusions. As thalassemia is passed from parents to children, there aren’t many preventive measures unless genetic testing is done on the embryo prior to implantation.

This couple began their IVF treatment in October 2022. After thorough genetic testing on their embryos, they only had 1 euploid (normal) embryo which was free from the thalassemia major. After their first embryo transfer, they successfully carried the pregnancy to term.