Indians may have a higher prevalence of cystic fibrosis

NEW DELHI: The prevalence of cystic fibrosis (CF) - a genetic disorder - in India could be higher than previously believed, showed a study conducted by Sir Ganga Ram hospital.
Cystic fibrosis is an inherited life-threatening disorder that damages the lungs and digestive system. It affects cells that produce mucus, sweat and digestive juices, causing the fluids to become thick and sticky.As a result, the respiratory passageways get blocked.
The study, published in the BMC Medical Genetics of London, was conducted among 200 individuals - 101 men and 99 women. They were visiting the hospital's gynaecology out-patient clinic for various reasons unrelated to genetic disorders.
According to the doctors, for the first time, a high carrier frequency of 4.5% for CF has been revealed. The study showed a high carrier frequency for genetic forms of deafness and Pompe disease. Carrier status does not mean affected by the disease. If both husband and wife are carriers, then there is a 25% chance of their children suffering from the disease. Based on this carrier rate, the prevalence of CF would be as high as one in 2,000 newborns, doctors said.
"Based on this study, cystic fibrosis should be added to the list of diseases like 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 newborn screening too. Sir Ganga Ram Hospital is planning to add CF to the existing newborn screening programme," said I C Verma, senior consultant and advisor at the Institute of Medical Genetics and Genomics of the hospital.
Meanwhile, Sunita Bijarnia-Mahay, senior consultant at the Institute of Medical Genetics & Genomics, said, "Our study also found that the disease-causing pathogenic variants in the Indian population were different from those commonly observed in the West. It is because of our unique system of marriages within the same caste/community and presence of consanguineous marriages"
Patients with CF inherit mutated copies of genes from both the parents. If one inherits one copy, then the patient is asymptomatic but is a carrier. This means there is a chance he or she can pass it to the children, if his partner is also a carrier. There is no cure for CF, but medication and other therapies can ease the symptoms and prolong life. The only way it can be prevented is by genetic screening.