Epidemiology of β-thalassaemia in Western India: Mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat

British Journal of Haematology

Volumn 149, Issue 5, 2010, Pages 739-747

  Colah, Roshan ^a   Gorakshakar, Ajit ^a   Phanasgaonkar, Supriya ^a   D'Souza, Edna ^a   Nadkarni, Anita ^a   Surve, Reema ^a   Sawant, Pratibha ^a   Master, Dilip ^b   Patel, Ramesh ^b   Ghosh, Kanjaksha ^a   Mohanty, Dipika ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^b Baroda Medical College   (India)

Author keywords

thalassaemia; Epidemiology; Micromapping; Western India

Indexed keywords

ADENINE; CYTOSINE; GUANINE;

ARTICLE; BETA THALASSEMIA; CODON; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GEOGRAPHIC DISTRIBUTION; HEALTH CARE NEED; HEALTH PROGRAM; HEMOGLOBINOPATHY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INDIA; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL; PUBLIC HEALTH PROBLEM;

BETA-THALASSEMIA; CHROMOSOME MAPPING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDIA; INFANT, NEWBORN; MUTATION; PREVALENCE;

EID: 77952634429     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08131.x     Document Type: Article

References (26)

1. Agarwal, S., Pradhan, M., Gupta, U.R., Sarwai, S. Agarwal, S.S. (2000) Regional distribution of beta thalassaemia mutations in Uttar Pradesh, India. Hemoglobin, 24, 89 97.
2. Bandyopadyay, A., Bandyopadhyay, S., Basak, J., Mondal, B.C., Sarkar, A.A., Majumdar, S., Das, M.K., Chandra, S., Mukhopadhyay, A., Sanghamita, M., Ghosh, K. Dasgupta, U.B. (2004) Profile of beta thalassaemia in eastern India and its prenatal diagnosis. Prenatal Diagnosis, 24, 992 996.
3. Bittles, A.H. (2002) Endogamy, consanguinity and community genetics. Journal of Genetics, 81, 91 98.
4. Colah, R.B., Gorakshakar, A.C., Lu, C.Y., Nadkarni, A.H., Desai, S.N., Pawar, A.R., Lulla, C.P., Krishnamoorthy, R. Mohanty, D. (1997). Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassaemia syndromes. Indian Journal of Haematology and Blood Transfusion, 15, 10 13.
5. Colah, R., Gorakshakar, A., Nadkarni, A., Phanasgaonkar, S., Surve, R., Sawant, P., Mohanty, D. Ghosh, K. (2009) Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population. Blood Cells, Molecules and Diseases, 42, 241 246.
6. Edison, E.S., Shaji, R.V., Devi, S.G., Moses, A., Vishwabandhya, A., Mathews, V., George, B., Srivastava, A. Chandy, M. (2008) Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clinical Genetics, 73, 331 337.
7. Fisher, C.A., Premawardhena, A., de Silva, S., Perera, G., Rajapaksa, S., Olivieri, N.F., Old, J.M. Weatherall, D.J. (2003) The Sri Lanka Thalassaemia Study Group. The molecular basis of the thalassaemias in Sri Lanka. British Journal of Haematology, 121, 662 671.
8. Garewal, G., Fearon, C.W., Warren, T.C., Marwaha, N., Marwaha, R.K., Mahadik, C. Kazazian, H.H. Jr. (1994) The molecular basis of thalassemia in Punjabi and Maharashtrian Indians including a multilocus aetiology involving triplicated α globin loci. British Journal of Haematology, 86, 372 376.
9. Jawahirani, A., Mamtani, M., Das, K., Rughwani, V. Kulkarni, H. (2007) Prevalence of beta thalassemia in subcastes of Indian Sindhis: results from a two phase survey. Public Health, 121, 193 198.
10. Martins, M.C., Olim, G., Melo, J., Magalhaes, H.A. Rodriques, M.O. (1993) Hereditary anemias in Portugal: epidemiology, public health significance and control. Journal of Medical Genetics, 30, 235 239.
11. Mehta, B.C., Dave, V.B., Joshi, S.R., Baxi, A.J., Bhatia, H.M. Patel, J.C. (1972) Study of hematological and genetic characteristics of Kutchi Bhanushalis. Indian Journal of Medical Research, 60, 305 311.
12. Modell, B. Darlison, M. (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bulletin of the World Health Organization, 86, 480 487.
13. Mulchandani, D.V., Fulare, M.B., Zodpey, S.P. Vasudeo, N.D. (2008) Prevalence and some epidemiological factors of β-thalassaemia in Sindhi community of Nagpur city, India. Indian Journal of Public Health, 52, 11 15.
14. Munshi, A., Anandraj, M.P., Joseph, J., Shafi, G., Anita, A.N. Jyothy, A. (2009) Inherited hemoglobin disorders in Andhra Pradesh, India: a population study. Clinica Chimica Acta, 400, 117 119.
15. Nishank, S.S., Ranjit, M., Kar, S.K. Chhotray, G.P. (2009) Molecular variants and clinical importance of beta thalassemia traits found in the state of Orissa, India. Hematology, 14, 290 296.
16. Old, J.M., Varawalla, N.Y. Weatherall, D.J. (1990) Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet, 336, 834 837.
17. Rao, V.R. Gorakshakar, A.C. (1990) Sickle cell hemoglobin, β-thalassaemia and G6PD deficiency in tribes of Maharashtra, India. Gene Geography., 4, 131 134.
18. Sheth, J.J., Sheth, F.J., Pandya, P., Priya, R., Davla, S., Thakur, C. Flavin, V. (2008) Beta thalassaemia mutations in western India. Indian Journal of Pediatrics, 6, 567 570.
19. de Silva, S., Fisher, C.A., Premawardhena, A., Lamabadusuriya, S.P., Peto, T.E., Perera, G., Old, J.M., Clegg, J.B., Olivieri, N.F. Weatherall, D.J. (2000) Thalassaemia in Sri Lanka: implications for the future health burden in Asian populations. Sri Lanka Thalassaemia Study Group. Lancet, 355, 786 791.
20. Sood, S.K., Madan, N., Colah, R., Sharma, S. Apte, S.V. (eds 1993) Collaborative Study on Thalassaemia. Report of an ICMR Task Force Study. Indian Council of Medical Research
21. Sukumaran, P.K. (1975). Abnormal hemoglobins in India. In : Trends in Hematology (ed. by N.N. Sen A.K. Basu pp. 225 236. Saraswati Press
22. Varawalla, N.Y., Old, J.M., Sarkar, R., Venkatesan, R. Weatherall, D.J. (1991) The spectrum of beta thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. British Journal of Haematology, 78, 242 247.
23. Vaz, F.E.E., Thakur, C.B., Banerjee, M.K. Gangal, S.G. (2000) Distribution of β- thalassaemia mutations in the Indian population referred to a diagnostic centre. Hemoglobin, 24, 181 194.
24. Verma, I.C. Bijarnia, S. (2002) The burden of genetic disorders in India and a framework for community control. Community Genetics, 5, 192 196.
25. Verma, I.C., Saxena, R., Thomas, E. Jain, P.K. (1997) Regional distribution of beta thalassaemia mutations in India. Human Genetics, 100, 109 113.
26. Weatherall, D.J. Clegg, J.B. (2001) Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization, 79, 704 712.