Genetic Disorder Statistics in India

The occurrence of genetic disorders in India is increasing at an alarming rate. Genes play a crucial role in transmitting various genetic disorders from one generation to the other. Certain diseases are passed from parents to children. Some genetic disorders are community specific because of certain mutations in the same gene pool.
One or more abnormal changes in DNA can cause a genetic disorder. Control and management of genetic disorder depend on the identification of genetic variants in the genome causally linked with the disease. There are hundreds of different genetic disorders reported in India. Some of the most common genetic disorders observed in India are:


  • Down Syndrome
  • Thalassemia
  • Cystic Fibrosis
  • Sickle Cell Anemia
  • Tay-Sachs disease
  • Spinal Muscular Atrophy
  • Hemophilia A
Epidemiology of Genetic  Disorders in India

A load of genetic disorders is high in certain communities due to the practice of consanguineous marriages in those communities. In cities, congenital malformations and genetic disorders are the main reason behind morbidity and mortality.

Some genetic disorder statistics in India are listed below:
  • The carriers of genetic disorders live a healthy life and may never show any symptoms throughout life. However, if both parents are carriers of mutated gene the risk of the infant being affected is as high as 25%.
  • According to the Union Ministry of Health and Family Welfare, over eight crore people suffer from genetic conditions.
  • A study reported the birth defect pervasiveness in India as 64.4 per 1000 live births.
  • The most common birth defect observed is musculo-skeletal disorders and neural tube defects.
  • A study reports that non-consanguineous couples were prone to transmission to their offspring by almost 6%.
  • Statistics show that 1 in every 25 individuals suffer from cystic fibrosis but shows no symptoms.
  • The frequency of Down syndrome was 0.87 per 1000.
  • Beta-thalassemia has shown a frequency of 1:2700 at birth, which means that approximately 9,000 cases of thalassemia major are born each year.
  • Sickle cell anemia affects 1 in every 150 live births. Almost 5200 infants are born with this disorder every year.
  • Spinal muscular atrophy affects approximately 1 in 10,000 newborns, and about 1 in every 50 live births is a genetic carrier for the disease.
  • There are about 17,000 hemophiliacs in India.
The figures state that it is high time we should consider genetic screening for early detection and preventive strategy planning.  It is not possible to cure genetic conditions but it is crucial to identify the predisposition to diseases and reduce the risk of mortality. Genetic testing helps us plan our health checkups and screening for any familial genetic condition

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