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) |