Page 82 - IJPS-8-2

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

of 1.5% for beta-thalassemia trait (BTT) on the basis of Availability of data
elevated level of HbA of ≥3.5%. The present study reported
2
a frequency of 0.5% for β-thalassemia mutations. The The datasets used and/or analyzed during the present study
analysis of mutation spectrum revealed highest prevalence are available from the corresponding author on reasonable
request.
for IVS 1-5 (G-C) (18.75%) followed by Codon 8/9 (12.5%)
and IVS 1-1 (G-T) with 6.25%, whereas Codon 41/42 References
(-TCTT) and 619 bp deletion were found to be absent.
Agarwal MB & Mehta BC. (1982). Symptomatic beta thalassemia
The present research is a preliminary attempt to record trait (A study of 143 cases. Journal of Postgraduate Medicine,
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individuals carrying the gene for BTT and having anemia. https://doi.org/10.1159/000071975
The information provided in this research can be used for
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Acknowledgments https://doi.org/10.3109/03630260009003427
We are grateful to the Department of Biotechnology, Ambekar SS, Phadke MA, Mokashi GD, et al. (2001). Pattern
HNB Garhwal University, Srinagar Garhwal, of hemoglobinopathies in Western Maharashtra. Indian
Uttarakhand - 246 174 (India), mentorship facilities to Pediatrics, 38(5):530-534.
carry out the studies. We would also like to thank the Baig SM, Azhar A, Hassan H, et al. (2006). Prenatal diagnosis
participants who formed the basis of our studies. of beta-thalassemia in Southern Punjab, Pakistan. Prenatal
Diagnosis, 26(10):903-905.
Funding https://doi.org/10.1002/pd.1523
None. Bajwa H & Basit H. (2022). Thalassemia. In: StatPearls. United
States: StatPearls Publishing.
Conflict of interest
Bandyopadhyay A, Bandyopadhyay S, Basak J, et al. (2004).
The authors have no conflicts of interest to declare. Profile of beta-thalassemia in eastern India and its prenatal
diagnosis. Prenatal Diagnosis, 24(12):992-996.
Author contributions
https://doi.org/10.1002/pd.1049
Conceptualization: Aprajita Santosh Mishra Bashyam MD, Bashyam L, Savithri GR, et al. (2004). Molecular
Formal analysis: Aprajita Santosh Mishra genetic analyses of beta-thalassemia in South India reveals
Investigating: Aprajita Santosh Mishra, Pramesh Chandra, rare mutations in the beta-globin gene. Journal of Human
and Priyanka Negi Genetics, 49(8):408-413.
Methodology: Pramesh Chandra Lakhera https://doi.org/10.1007/s10038-004-0169-9
Writing – original draft: Aprajita Santosh Mishra, Pramesh
Chandra Lakhera, Priyanka Negi, and Anjita Pandey Bhukhanvala DS, Italia K, Sawant P, et al. (2013). Molecular
Writing – review & editing: Aprajita Santosh Mishra, characterization of β-thalassemia in four communities in
South Gujarat--codon 30 (G → A) a predominant mutation
Pramesh Chandra Lakhera, Priyanka Negi, and Anjita in the Kachhiya Patel community. Annals of Hematology,
Pandey 92(11):1473-1476.
Ethics approval and consent to participate https://doi.org/10.1007/s00277-013-1777-2

The ethical clearance for the present research was obtained Black ML, Sinha S, Agarwal S, et al. (2010). A descriptive profile
of β-thalassaemia mutations in India, Pakistan and Sri
by the Institutional Ethical Committee (I.E.C.) of H.N.B. Lanka. Journal of Community Genetics, 1(3):149-157.
Garhwal University (2016/01). Written consents were
obtained from all the participants. https://doi.org/10.1007/s12687-010-0026-9
Cao A & Galanello R. (2010). Beta-thalassemia. Genetics in
Consent for publication Medicine, 12(2):61-76.
Not applicable. https://doi.org/10.1097/GIM.0b013e3181cd68ed

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