Hyderabad: In order to tackle thalassemia and sickle cell anaemia, compulsory genetic screening is being proposed by the Union health ministry for all pregnant women as they state that these disorders can be prevented whereas treating them is a major challenge.
The draft policy by the ministry states that pregnant mothers are recommended to undergo tests based on automated red cell counts where the haemoglobin variants will be identified. Identifying women carriers is important as that will enable in screening their husband too, stated the draft proposal.
Dr Pavani Upendram consultant genetic counsellor at KIMS hospital explained, “For thalassemia, there is a need for pre-marital counselling and also pre-conception counselling. The problem is that people still come after they have had a child who has the problem. There are very few who come forward on their own after seeing a case in the family. The compulsory screening process will help as these deficiencies can be picked up.”
Genetic disorders are high in 20 per cent couples with consanguineous marriages. The estimated carriers of thalassemia in India are 3.6 to 3.9 crores, according to the data collected by the government. There are an estimated 15,000 children born with thalassemia major every year.
There are 25 lakh carriers of sickle cell disease and about 1,25,000 patients have sickle cell disease in India.
The screening is going to concentrate on these two diseases and further more will help them to identify the other genetic disorders like Down’s Syndrome and disorders due to blood, skin and immune-related to genetic mutation. The Indian Genetic Disease Database by ICMR has a list of 52 genetic diseases identified in India. There are 52 different mutations which have so far been recorded but there could be much more. Presently in the Institute of Genetics in Hyderabad, women from government centres and those identified as high risk category are being screened. But in the new initiative, experts state that the diagnostic companies must provide cost benefit so that it becomes affordable for the families.
