Most Common Genetic Disorders in India
In March 2006, research carried by the March of Dimes Birth Defect Foundation reported the birth defect pervasiveness in India as 64.4 over 1000 live births. Rao and Ghosh (2005) states, 1 out of every 20 newborns admitted to the hospital carries a genetic disease that eventually account for nearly 1 out of 10 infant mortality. In the regions with more congenial marriages, congenital abnormalities and genetic disorders are the third most common cause of mortality in newborns. Nevertheless, it is crucial to prevent the birth of a child with genetic disorder thus reducing the risk
Top 5 most Common genetic disorders in Indian ethnicity are Beta- Thalassemia, Cystic Fibrosis, Sickle Cell Anemia, Spinal Muscular Atrophy and Haemophilia A.
Beta- Thalassemia: The study shows 1 out of every 300 live births suffers from Beta- Thalassemia. It is a genetic blood disorder carried in which the body makes an abnormal pattern of haemoglobin. Haemoglobin is the protein in red blood cells that carries oxygen. Affected people also have a deficiency of red blood cells (anemia), which results in pale skin, weakness, lethargy, and more severe complications. Individuals with beta thalassemia are at increased risk of growing abnormal blood clots. There is two kind of beta thalassemia: thalassemia minor (known as a carrier of the disease) and thalassemia major (also called Cooley's anemia).
Cystic Fibrosis: Cystic fibrosis (CF) is a transmitted genetic disorder that causes persistent lung infections and limits the ability to breathe over time. A study by Igenomix shows 1 in every 25 live births suffer from Cystic Fibrosis. People with CF have obtained two copies of the defective gene, one copy from each parent, which results in 25% risk of contracting the disease. CF Symptoms include a problem in breathing, chronic lung infections, digestive, and reproductive issues.
Sickle Cell Anemia: Sickle Cell Anemia (SCA) is a genetic blood disorder that affects 1 in every 150 live births. It induces red blood cells to grow into a crescent shape, like a sickle. The sickle-shaped red blood cells split easily, inducing anemia. These red blood cells survive for only 10-20 days rather than normal 120 days. This causes severe pain and permanent harm to cerebellum, heart, lungs, kidneys, and other body organs. In the United States, every year about 2,000 live births is born with sickle cell disorder.
Spinal Muscular Atrophy: Spinal Muscular Atrophy (SMA) is a genetic disorder that strips an individual of physical strength by influencing the nerve cells in the spinal cord, driving away the energy to walk, eat, or breathe. SMA affects approximately 1 in 10,000 babies, and about 1 in every 50 live births is a genetic carrier.
Haemophilia A: Haemophilia A or factor VIII (FVIII) deficiency is a hereditary disorder affected by the lack of defective factor VIII, a clotting protein. Even though it is carried in genes approximately 1/3 of cases are induced by a spontaneous mutation. According to the US Centres for Disease Control and Prevention, haemophilia occurs in approximately 1 in 5,000 live births. Individuals with haemophilia A usually, bleed longer than other people. Bleeds can happen internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma.
We all have changes in our genes, and the carrier screening test allows us to find out whether they could cause a disease in our children. 20% of infant mortality in developed countries is caused due to genetic disorders. Igenomix would provide a key platform for screening the risk of transmission of genetic disorders to your unborn. Till yet Igenomix has analyzed more than 7,500 samples and screened 6,000 mutation in 600 genetic disorders. It is the only clinically validated genetic screening test based on next generation sequencing, reducing the risk of transmitting genetic disorders to 1:100,000. Genetic diseases cannot be cured but can be prevented with Carrier Genetic Tests (CGT).
(Dr. Rajni Khajuria, PhD is Laboratory Manager, Igenomix India)