MedGenome Labs sees that even as medical science strives to find a cure for thalassemia, making genetic carrier testing more prevalent among would-be parents can drastically reduce the occurrence of this inherited disease in the population.
The company has 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.
On the eve of World Thalassemia Day observed on May 8, the scientific team at the Bengaluru-based genomic diagnostics and research firm, highlighted that “Would-be parents, who are carriers of the disease, are at a greater risk of having a child with thalassemia.
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 with MedGenome Labs.
Thalassemia affects both males and females uniformly and is prevalent across all states in India. Marriages between close members of a family or between members of close-knit local communities is responsible for at least 3-17% of thalassemia occurrences in India.
There is no cure for thalassemia currently. Blood transfusions at intervals of 2-3 weeks are prescribed to patients affected with thalassemia major. This can be emotionally and financially draining for the family. The best solution is to prevent it from happening and all it takes is a screening test of the couple when they are planning for a family. The screening test is fairly simple and is now accessible for people across the country.
There is an urgent need to launch a national campaign to popularize genetic testing of all individuals and not only those with a family history, to reduce the healthcare burden on our society, she added.