Abstract
Objective
To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities.
Methods
The mutation screening was carried out using ARMS-PCR in children with β thalassemia.
Results
Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1–5 (G→C) followed by 619 bp deletions of the total cases coming to Gujarat.
Conclusion
Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Chitra T, Vaz F, Banerjee M, Chhaya K, Natrajan AG, Harsha Y. and Sudha G. Prenatal Diagnosis of β-Thalassaemia and other Haemoglobinopathies in India. Prenatal Diagnosis 2000; 20: 194–201.
Mohanty D, Folah RB, Gorakshakar AC, Nadkarni AH, Phanasagamkar SP, Shetty S, Ghosh K, Mukherjee MB. Genetic Disorders in Haematological Practice in India. Community genetics. 2002; 5: 197–200.
MB Agrawal, Mehta BC. Genotypic analysis of symptomatic thalassaemia syndromes (A study of 292 unrelated cases from Bombay). J Postgrad Med 1982; 28: 1–3.
Vaz F, Thakur CB, Bannerjee MK. and Gangal SC. Distribution of β-Thalassemia mutation in Indian population referred to a diagnostic centre. Hemoglobin 2000; 24: 181–194.
Old JM and Ludlam CA. Antenatal diagnosis. Bailliéres Clin. Haematology 1991; 4: 391–428.
Old JM, Varawalla NY, Weatherall DJ. Rapid Detection and Prenatal Diagnosis of β-Thalassaemia: Studies in Indian and Cypriotic populations in U.K. Lancet 1990; 336: 834–857.
Ishwar CV, Renu S, Elizabeth T, Pawan J. Regional distribution of β-Thalassemia in India. Hum Genet 1997; 100: 109–113.
Chakrabarti P, Gupta R, Mishra A, Rai M, Singh VP, Dash D. Spectrum of beta-thalassaemia mutations in North Indian states: a beta-thalassaemia trait in cis. Clin Biochem 2005; 38: 576–578.
Saxena R, Jain PK, Thomas E, Verma IC. Prenatal diagnosis of beta-thalassaemia: experience in a developing country. Prenat Diagn 1998; 18: 1–7.
Parikh P, Cotton M, Boehm CD, Kazazian HH. Ethnic distribution of β-Thalassaemia in Indian subcontinent. Lancet 1990; 336: 1006.
Varawalla NY. Prenatal diagnosis and control strategies for β-Thalassaemia on the Indian subcontinent. Natl Med J India 1992; 5: 157–161.
Varawalla NY, Fitches AC, Old JM. Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent. Hum Genet 1992; 90: 443–449.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sheth, J.J., Sheth, F.J., Pandya, P. et al. β-Thalassemia mutations in western India. Indian J Pediatr 75, 567–570 (2008). https://doi.org/10.1007/s12098-008-0109-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-008-0109-3