On the occasion of World Thalassemia Day, the scientific team at the genomic diagnostics and research firm, MedGenome Labs, stressed that all couples getting married should undergo carrier testing and genetic counselling routinely.

This was even more critical in the case of thalassemia, a MedGenome release said on May 8. “Would-be parents, who are carriers of the disease, are at a greater risk of having a child with thalassemia major, especially if they were married to another person who was also a carrier. A couple with thalassemia trait, have one in four chances of having a child with thalassemia major even if they don’t show any symptoms themselves or have no family history,” Dr Sheetal Sharda, Clinical Geneticist with MedGenome Labs
said.

Thalassemia was an inherited (genetic) blood disorder in which the body makes a reduced quantity of haemoglobin. It was one of the leading causes of severe haemolytic anaemia amongst infants which was associated with excessive number of red blood cells being destroyed by the body, requiring lifelong multiple blood transfusions to stay alive.

Thalassemia affects both men and women uniformly and was prevalent across all states in India. Marriages between close members of a family or between members of close-knit local communities weres responsible for at least 3-17 per cent of thalassemia occurrences in India. There was no cure for thalassemia currently. Treatments include blood transfusions, iron chelation therapy (removal of excess iron from the body) and bone marrow transplant, she said.

Stating that blood transfusions at intervals of 2-3 weeks were prescribed to patients affected with thalassemia major, Dr Sheetal said this could be emotionally and financially draining for the family. The best solution was to prevent it from happening and all it takes was a screening test of the couple when they were planning for a family. The screening test was fairly simple and was now accessible for people across the country, Dr Sheetal said.

Genetic analysis could help the couple take informed reproductive decisions for their future married life, Dr Sheetal said, adding, there was 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 the society due to untreatable genetic disorders.”