Page 80 - IJPS-8-2

International Journal of
Population Studies β-thalassemia mutations in Himalayan population

Table 1. Distribution of five most common mutations for beta‑thalassemia among the eastern zone of Indian population
State Sample 619 bp Co 8/9 Co 41/42 IVS‑1nt 5 IVS‑1nt 1 References
size deletion (+G) (‑CTT) (G‑C) (G‑T)
West Bengal 2,456 1.0 0 4.0 77.2 4.0 Colah et al. (2009)
11 45.450 0 0 0 0 Bashyam et al. (2004)
East India 80 0 0 17.50 28.75 0 Kukreti et al. (2003)
Bihar 2,456 0 0 15.0 70.0 0 Colah et al. (2009)
Jharkhand 2,456 0 0 0 75.0 0 Colah et al. (2009)
Orissa 2,456 1.2 0 2.6 88.6 0 Colah et al. (2009)
276 0 0.38 0 4.59 0.38 Sahoo et al. (2014)
Bihar, Chhattisgarh, and 1,642 0 3.6 5.4 51.8 0 Nagar et al. (2014)
Jharkhand

Table 2. Distribution of five most common mutations for beta‑thalassemia among the western zone of Indian population
State Sample 619 bp Co 8/9 Co IVS‑1nt 5 IVS‑1nt References
size deletion (+G) 41/42 (G‑C) 1 (G‑T)
(‑CTT)
Maharashtra 2,456 1.7 1.7 2.0 66.5 0.7 Colah et al. (2009)
126 2.38 6.34 3.96 65.07 9.52 Satpute et al. (2012)
Gujarat 2,456 6.5 12.6 6.9 48.6 5.0 Colah et al. (2009)
Gujarat (Sindhi) 1,233 49.2 0 0 0 25.5 Vaz et al. (2000)
Gujarat (Lohanas) 1,233 0 0 0 0 31.2 Vaz et al. (2000)
Gujarat (Punjabis) 1,233 0 0 0 0 34.7 Vaz et al. (2000)
Goa 2,456 0 0 0 15.4 0 Colah et al. (2009)
Rajasthan 2,456 1.1 2.3 9.9 72.4 3.3. Colah et al. (2009)
Madhya Pradesh 2,456 10.6 19.9 5.7 36.9 11.3 Colah et al. (2009)
Chhattisgarh 2,456 23.5 23.5 0 35.3 5.9 Colah et al. (2009)
East-west population
Rajasthan, Maharashtra, Assam, and West Bengal 75 13.23 0 0 0 0 Shah et al. (2017)

Table 3. Distribution of five most common mutations for beta‑thalassemia among the southern zone of Indian population

State Sample 619 bp Co 8/9 Co 41/42 IVS‑1nt 5 IVS‑1nt 1 References
size deletion (+G) (‑CTT) (G‑C) (G‑T)
Andhra Pradesh 2,456 0 0 0 78.8 0 Colah et al. (2009)
39 0 0 0 76.92 0 Bashyam et al. (2004)
Karnataka 2,456 0 0.8 0.8 67.2 1.6 Colah et al. (2009)
28 0 0 0 64.28 3.57 Bashyam et al. (2004)
Kerala and Tamil Nadu 2,456 0 0 6.31 56.3 0 Colah et al. (2009)

et al., 2009). The previous studies showed that Codon Haryana (13.5%) (Colah et al., 2009), but for our study, the
8/9 had a higher prevalence of 37.2% in immigrants from frequency of this mutation was nil. A study carried out in
Pakistan followed by 23.5% in Chhattisgarh population Himachal Pradesh/Jammu Kashmir region by Colah et al.
(Colah et al., 2009), whereas in our study, it was found (2009), reported 37.5% IVS 1-1 (G-T) mutation. The very
only 12.5%. Codon 41/42 (-TCTT) was found to be higher same mutation is found to be the second highest among the
(17.50%) in East Indian population in the previous studies Punjabi Hindu population of Gujarat (34.7%) followed by
(Kukreti et al., 2002) and was also reported in Punjab and Lohanas of Gujarat (31.2%) (Vaz et al., 2022). The previous

Volume 8 Issue 2 (2022) 74 https://doi.org/10.36922/ijps.v8i2.324