Genetic carrier testing of adults key to reducing occurrence of Thalassemia in children: MedGenome Labs

Would-be parents, who are carriers of the disease, are at a greater risk of having a child with Thalassemia Major, especially if they are married to another person who is also a carrier

On the eve of World Thalassemia Day that falls on May 8, the scientific team at the Bengaluru-based genomic diagnostics and research firm, MedGenome Labs, stressed that all couples getting married should undergo carrier testing and genetic counselling routinely and this is even more critical in the case of Thalassemia.

“Would-be parents, who are carriers of the disease, are at a greater risk of having a child with Thalassemia Major, especially if they are married to another person who is also a carrier. A couple with Thalassemia trait, have 1 in 4 chances of having a child with Thalassemia Major even if they don’t show any symptoms themselves or have no family history,” said Dr Sheetal Sharda, Clinical Geneticist, MedGenome Labs.

“In the current Indian context, advanced genetic testing for carrier screening of parents, combined with genetic counselling, is the best way to reduce the occurrence of thalassemia in India. Genetic analysis can help the couple take informed reproductive decisions for their future married life,” Dr Sharda added. “There is an urgent need to launch a national campaign to popularise genetic testing of all individuals and not only those with a family history, to reduce the healthcare burden on our society due to untreatable genetic disorders.”