Genetic testing can reduce inheritance of thalassemia
Dr Sheetal Sharda said that 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.
PUNE: 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, noted doctors. World Thalassemia Day was celebrated on May 8.
Dr Sheetal Sharda, Clinical Geneticist with MedGenome Labs, said that 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. Thalassemia is an inherited (genetic) blood disorder in which the body makes a reduced quantity of haemoglobin,” said Sharda.
She added that thalassemia is one of the leading causes of severe haemolytic anaemia among infants, which is associated with an excessive number of red blood cells being destroyed by the body, requiring lifelong multiple blood transfusions to stay alive
“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 to 17 per cent of thalassemia occurrences in India,” said Sharda.
Dr Kannan Subramanium, hematologist from a city-based hospital, said that 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 make informed reproductive decisions for their future married life. 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,” said Subramanium.
He also emphasised on prevention of such pregnancy, as there is no cure for thalassemia currently.
WHAT IS THALASSEMIA?
- Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
- The disorder results in excessive destruction of red blood cells, which leads to anaemia. Anaemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
- Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.