Lack of awareness and dearth of facilities are responsible for the state being one among the top in occurrences of genetic disorders. “Over 80,000 children are born every year with different birth defects and genetic disorders in the state, of whom 25 per cent die in infancy. Moreover, socio-economic factors and language barrier have been the reason for the rural folk’s ignorance about the impact of genetic disorders and availability of proper screening tests at prenatal and infancy stages,” said Prof. A Jyothy, director, Institute of Genetics and Hospital for Genetic Diseases, Osmania University.
“Consanguineous marriages (among close relatives) is the reason why genetic disorders like thalassemia, Down’s syndrome, dichenne muscular disorder occur. It can be avoided with screening in the prenatal and better still, at prenuptial stages,” said Dr Anjana Munshi, in-charge, molecular biology at OU.
“While Mediterranean countries, including Iran, have brought down the occurrences of thalassemia to almost zero levels by proper screening, in India, people often lack the scientific temperament and refuse to subject themselves or their foetuses to such tests. When urban India is very particular about choosing their partners, why not include the genetic disorder screening too? A test of a few thousand rupees will save from having a baby who will have a dented life span and lead a severely painful and expensive life,” said Dr Buragadda Srinadh, consultant in foetal medicine.