Page 81 - IJPS-8-2

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

Table 4. Distribution of five most common mutations for beta‑thalassemia among the northern zone of Indian population as well
as Garhwal population
State Sample 619 bp Co 8/9 Co 41/42 IVS‑1nt 5 IVS‑1nt References
size deletion (+G) (‑CTT) (G‑C) 1 (G‑T)
Punjab, Haryana, and Uttar Pradesh 1,050 21 12.1 8.7 34.1 15.8 Verma et al. (1997)
Delhi 46 34.8 13 9.8 22.8 19.6 Madan et al. (1998)
Uttar Pradesh 376 2.5 0 0 64.3 0 Agarwal S et al., 2000
98 12.5 5.20 6.25 54.0 3.12 Agarwal S et al., 2003
48 0 21 4 46 12 Christopher AF et al., 2013
Uttar Pradesh 2,456 0.8 1.6 9.6 64.8 5.6 Colah et al. (2009)
Jammu, Kashmir, and Himachal 2,456 0 0 0 50.0 37.5 Colah et al. (2009)
Pradesh
Punjab 780 18.7 14.8 15.3 31.8 12.8 Garewal & Das., 2003
997 22.47 16.35 10.83 24.97 14.44 Black et al. (2010)
Punjab and Haryana 2,089 9.6 7.7 13.5 28.8 17.3 Panigrahi & Marwaha (2007)
Chandigarh (Sindhi) 87/1233 0 0 0 25.5 0 Panigrahi & Marwaha (2007)
Chandigarh (Punjabi) 87/1233 0 0 0 34.7 0 Panigrahi & Marwaha (2007)
Chandigarh (Lohanas) 87/1233 0 0 0 31.2 0 Panigrahi & Marwaha (2007)
Other North Indian States 62 94.1 0 0 0 0 Chakrabarti et al. (2005)
Uttarakhand
Garhwal (Uttarakhand) 4,081 0 12.5 0 18.75 6.25 Present study

studies (Baig et al., 2006) reported a high frequency of rare, and our nation is not an exception. In Pakistan, a
37.3% for IVS 1-1 (G-T) mutation in Punjabi population bill is passed by the government where it is mandatory
residing in Pakistan. On the contrary, our study exhibited to carry out carrier testing for relatives of thalassemia
only 6.25% of the screened population having IVS 1-1 patients. A similar system of bill is also placed in Dubai,
(G-T) mutation. In our study, Co 41/42 (-CTT) and 619 bp Saudi Arabia, and Abu Dhabi where the frequency of beta-
deletion were completely absent. thalassemia is 19% (Cao & Kan, 2013). All these together
Of the total 64 individuals who were screened for with our findings signal the importance of initiatives and
mutational spectrum, mutations were found only in 24 implementations of some targeted intervention programs
individuals and the remaining 40 individuals did not in our study areas.
reveal the presence of any of these five common mutations. Furthermore, some caveats are noteworthy.
The remaining 40 individuals may possess a novel Consanguineous marriage causes clustering of the
mutation or can only be carrier. The confirmation of novel mutations among some of the communities and, therefore,
mutation can be done through DNA sequencing. However, should be avoided. Clinical management, genetic
DNA sequencing for the study presented could not be counseling, and prenatal diagnostic techniques should be
carried out due to economic constraint and limitation of made available to the individual level. Awareness programs
resources. Furthermore, only 64 individuals out of the total regarding anemia and thalassemia must be implemented
648 screened for HbA . The small sample size may suffer for the general public through media and other modes,
2
from some biases in our findings and thus the cautions are to make the public aware about this deadly disorder. As,
needed in interpreting our findings. the burden of thalassemia can be reduced at community
Despite some limitations, our study could have and country level only through awareness, screening,
important implications. There are various programs and prevention strategies in conjunction with each other
implemented by the state governments and non- (Kumar et al., 2015).
governmental organizations (NGOs) around the world, 5. Conclusions
including India, for the awareness of thalassemia and also
about its fatal effects. However, nothing has been done to It is the first study to report and provide baseline data on the
make the population of Garhwal aware of this disorder. prevalence of β-thalassemia among the studied population
In the developing country like India, thalassemia is not of Garhwal, India. This research exhibited prevalence rate

Volume 8 Issue 2 (2022) 75 https://doi.org/10.36922/ijps.v8i2.324