NEW DELHI: Cystic Fibrosis, which was considered to be rare among Indians, is now found in high prevalence — especially among North Indians, found a pilot study on genetic research conducted by the Institute of Medical Genetics and Genomics (IMGG) of Delhi’s Sir Ganga Ram Hospital.
Cystic Fibrosis is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. The study, published in the BMC Medical Genetics in London, found that for the first time, a high carrier frequency of 4.5 per cent, which was 9 per 200, for Cystic Fibrosis (CF) has been revealed. The carrier frequency of 9 per 200 found in the study has an expected disease prevalence rate of 1:2000.
The study also showed a high carrier frequency for genetic forms of deafness and Pompe disease, among a cohort of 200 subjects from north India. Carrier status does not mean disease. If both husband and wife are carriers then there is a 25 per cent chance of their children suffering from the disease. Based on this carrier rate, the prevalence of CF disease would be as high as one in 2,000 newborns.
“Based on this study, Cystic Fibrosis should be added to beta-thalassemia and spinal muscular disorders that should be screened in all pregnant women to prevent these diseases. It should also be added to the list of disorders for which newborn screening is being done. Sir Ganga Ram Hospital is planning to add CF to the existing newborn screening programme,” said I C Verma, consultant and Advisor at the IMGG.