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Table 2 List of rare genetic diseases with estimated prevalence/ incidence in India

From: Genomics of rare genetic diseases—experiences from India

S. no. Rare disease Frequency in India Measure of estimation State/region Reference Global prevalence (Orphanet)
1 Hemophilia A 0.9 per 100,000 Prevalence All across India [94] 1–9/100,000 (ORPHA:98878)
2 Hemophilia B 0.1 per 100,000 Prevalence All across India [94] 1–9/100,000 (ORPHA:98879)
3 Sickle cell anemia 2–20% Allele frequency All across India [57] 1–5/10,000 (ORPHA:232)
4 Beta thalassemia trait 3–4% Carrier Prevalence All across India [95] 1–9/1,000,000 (ORPHA:848)
5 Parkinson's disease 6–53/100,000 Prevalence All across India [96] Unknown (ORPHA:411602)
6 Duchenne muscular dystrophy and Spinal muscular atrophy 1 in 1400 male live births Prevalence Tamil Nadu, South India [97] NA
7 Cystic fibrosis 0.40% Gene frequency All across India [98] 1–9/100,000 (ORPHA:586)
8 Epilepsy 2.5–11.9/1000 Prevalence North, South, East India [96]
9 Intellectual disability 10.5/1000 Prevalence All across India [99]
10 Skeletal dysplasia 19.6 per 10,000 newborns Incidence Karnataka, South India [100] < 1/1,000,000 (ORPHA:1858)
  1. Note: The table provides a list of prevalent rare genetic disease studies carried out in India. While there were studies for many other diseases, they have been excluded since they do not represent the actual prevalence in the general population