Profiling β-thalassaemia mutations in India at state and regional levels: Implications for genetic education, screening and counselling programmes

HUGO Journal

Volumn 3, Issue 1, 2009, Pages 51-62

  Sinha, S ^a,b   Black, M L ^b   Agarwal, S ^c   Colah, R ^d   Das, R ^e   Ryan, K ^b   Bellgard, M ^b   Bittles, A H ^b,f  

^a Thalassemia Working Group   (India)

^b MURDOCH UNIVERSITY   (Australia)

^c SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^d NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^e POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^f EDITH COWAN UNIVERSITY   (Australia)

Author keywords

thalassaemia; Bioinformatics; Community genetics; Genetic counselling; Genetic education; Haemoglobinopathies; Mutation screening; Population genetics; Population stratification; Regional profiling

Indexed keywords

EID: 77951622783     PISSN: 18776558     EISSN: 18776566     Source Type: Journal    
DOI: 10.1007/s11568-010-9132-3     Document Type: Article

References (52)

1. Agarwal MB (2005) The burden of haemoglobinopathies in India-time to wake up? J Assoc Physician India 53: 1017-1018.
2. Agarwal MB, Mehta BC (1982) Genotypic analysis of symptomatic thalassaemia syndromes (A study of 292 unrelated cases from Bombay). J Postgrad Med 28: 1-3.
3. Agarwal S, Hattori Y, Gupta UR, Agarwal SS (1999) A novel Indian β-thalassemia mutation: Hb Lucknow [PS(AS)Lys + Arg]. Hemoglobin 23: 263-265.
4. Agarwal S, Hattori Y, Agarwal SS (2000a) Rare β-thalassemia mutations in Asian Indians. Amer J Hematol 65: 322-323.
5. Agarwal S, Pradhan M, Gupta UR, Sarwai S, Agarwal SS (2000b) Geographic and ethnic distribution of β-thalassemia mutations in Uttar Pradesh, India. Hemoglobin 24: 89-97.
6. Agarwal S, Gupta A, Gupta UR, Sarwai S, Phadke S, Agarwal SS (2003) Prenatal diagnosis in beta-thalassaemia: an Indian experience. Fetal Diagn Therapy 18: 328-332.
7. Agarwal S, Arya V, Stolle CA, Pradhan M (2006) A novel Indian β-thalassemia mutation in the CACCC box of the promoter region. Eur J Haematol 77: 530-532.
8. Bandyopadhyay A et al (2004) Profile of β-thalassemia in eastern India and its prenatal diagnosis. Pren Diagn 24: 992-996.
9. Bashyam MD, Bashyam L, Gorinabele R, Sangal MGV, Rama Devi AR (2004) Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene. J Hum Genet 49: 408-413.
10. Bittles AH (2002) Endogamy, consanguinity and community genetics. J Genet 81: 91-98.
11. Bittles AH (2008) A community genetics perspective on consanguineous marriage. Commun Genet 11: 324-330.
12. Bittles AH (2009) Consanguinity, genetic drift, and genetic diseases in populations with reduced numbers of founders. In: Vogel F, Motulsky AG, Antonarakis SE, Speicher M (eds) Human genetics-principles and approaches, 4th edn. Springer, Heidelberg, pp 507-528.
13. Bittles AH, Black ML (2010) Consanguinity, human evolution and complex diseases. Proc Natl Acad Sci USA 107: 1779-1786.
14. Bittles AH, Hussain R (2000) An analysis of consanguineous marriage in the Muslim population of India at regional and state levels. Ann Hum Biol 27: 163-171.
15. Bittles AH, Mason WH, Greene J, Appaji Rao N (1991) Reproductive behavior and health in consanguineous marriages. Science 252: 789-794.
16. Black ML, Wang W, Bittles AH (2007) Unity and diversity: genetic studies on the population of China. In: Santos C, Lima M (eds) Recent advances in molecular biology and evolution: applications to biological anthropology. Research Signpost, Trivandrum, pp 347-371.
17. Census of India (2001-2003) Report on Causes of Death, Office of Registrar General, India. http://www. censusindia. gov. in/Vital_Statistics/Summary_Report_Death_01_03. pdf, p 2.
18. Census of India (2001a) Office of the Registrar General and & Census Commissioner, India. http://www. censusindia. gov. in/population_finder/State_Master. aspx.
19. Census of India (2001b) Office of Registrar General & Census Commissioner, India. http://www. censusindia. gov. in/Census_Data_2001/Census_Data_Online/Language/parta. htm.
20. Census of India (2001c) Office of Registrar General & Census Commissioner, Government of India, http://www. censusindia. gov. in/Census_Data_2001/Census_data_finder/A_Series/SC_ST. htm.
21. Christianson A, Howson CP, Modell B (2006) March of Dimes global report on birth defects. March of Dimes Birth Defects Foundation, White Plains.
22. 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 Mol Dis 42: 241-246.
23. Das SK, Madhusnata DE, Bhattacharya DK, Sengupta B, Das N, Talukder G (2000) Interaction of different hemoglobinopathies in Eastern India with a view to establish genotype-phenotype correlation. Am J Hum Biol 12: 452-459.
24. Edison ES, Shaji RV, Devi SG, Moses A, Viswabandhya A, Matthews V, George B, Srivastava A, Chandy M (2008) Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet 73: 331-337.
25. el-Kalla S, Matthews AR (1995) A novel frameshift mutation causing β-thalassemia in a Sikh. Hemoglobin 19: 183-189.
26. Gadgil M, Joshi NV, Manoharan S, Patil S, Prasad UVS (1998) Peopling of India. In: Balasubramanian D, Appaji Rao N (eds) The Indian human heritage. Universities Press, Hyderabad, pp 100-129.
27. Garewal G, Das R (2003) Spectrum of β-thalassemia mutations in Punjabis. Int J Hum Genet 3: 217-219.
28. Garewal G, Fearon CW, Warren TC, Marwaha N, Marwaha RK, Mahadik C, Kazazian HH Jr (1994) The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α-globin loci. Brit J Haematol 86: 372-376.
29. Garewal G, Das R, Ahluwalia J, Marwaha RK, Varma S (2005) Nucleotide -88 (C-T) promoter mutation is a common β-thalassemia mutation in the Jat Sikhs of Punjab, India. Am J Hematol 79: 252-256.
30. Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP (2007) HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mut 28: 206.
31. Gupta A, Hattori Y, Gupta UR, Sarwai S, Nigam N, Singhal P, Agarwal S (2003) Molecular genetic testing of β-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39. Genet Test 7: 163-168.
32. Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG (1984) Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J 3: 593-596.
33. Kukreti R, Dash D, Vineetha KE, Chakravarty S, Das SK, De M, Talukder G (2002) Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an Eastern Indian population. Am J Hematol 70: 269-277.
34. Livingstone FB (1985) Frequencies of hemoglobin variants: thalassemia, the glucose-6-phosphate dehydrogenase deficiency, G6PD variants, and ovalocytosis in human populations. Oxford University Press, New York.
35. Mohanty D, Colah R, Gorakshakar A (eds) (2008) Jai Vigyan S & T mission project on community control of thalassaemia syndromes-awareness, screening, genetic counselling and prevention. A national multicentric task force study of ICMR (2000-2005), Indian Council of Medical Research, New Delhi.
36. Munshi A, Anandraj MPJS, Joseph J, Shafi G, Anila AN, Jyothy A (2009) Inherited hemoglobin disorders in Andhra Pradesh, India: a population study. Clin Chim Acta 400: 117-119.
37. NSSO (2005) Press Note, July 2004-2005 Report, National Sample Survey Organization, Ministry of Statistics and Program Implementation. Press Information Bureau, Government of India, New Delhi.
38. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriancou K, Al-Quobaili F, Khan B (2001) A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 25: 397-407.
39. PRB (2009) World population data sheet. Population Reference Bureau, Washington DC.
40. Reich D, Thangaraj K, Patterson N, Price AL, Singh L (2009) Reconstructing Indian population history. Nature 461: 489-495.
41. Sheth JJ, Sheth FJ, Pandya P, Priya R, Davla S, Thakur C, Vaz F (2008) β-thalassemia mutations in Western India. Ind J Pediatr 75: 567-570.
42. Tamhankar PM, Agarwal S, Arya V, Kumar R, Gupta UR, Agarwal SS (2009) Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat Diagn 29: 637-638.
43. Thein SL, Hesketh C, Wallace RB, Weatherall DJ (1988) The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Brit J Haematol 70: 225-231.
44. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991a) The spectrum of β-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Brit J Haemat 78: 242-247.
45. Varawalla NY, Old JM, Weatherall DJ (1991b) Rare beta-thalassaemia mutations in Asian Indians. Brit J Haemat 79: 640-644.
46. Varawalla NY, Fitches AC, Old JM (1992) Analysis of β-globin gene haplotypes in Asian-Indians: origin and spread of β-thalassaemia on the Indian subcontinent. Hum Genet 90: 443-449.
47. Vaz FEE, Thakur (Mahadik) CB, Banerjee MK, Gangal SC (2000) Distribution of β-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin 24: 181-194.
48. Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of β-thalassemia mutations in India. Hum Genet 100: 109-113.
49. Weatherall DJ, Clegg JB (2001) Inherited haemoglobin disorders: an increasing global health problem. Bull WHO 79: 704-712.
50. WHO (1989) Guidelines for the control of haemoglobin disorders: report of the VIth Annual Meeting of the WHO Working Group on Haemoglobinopathies, Cagliari, Sardinia, 8-9 April, 1989. Geneva, World Health Organization (unpublished document WHO/HDP/WG/HA/89.2).
51. WHO (2006) Thalassaemia and other haemoglobinopathies. World Health Organization Resolutions, May 2006, EB118.R1 and WHA59.20.
52. WHO (2008) Joint WHO-TIF meeting on management of haemoglobin disorders (2nd: 2008: Nicosia, Cyprus) Geneva, World Health Organization. (NLM classification: WH 190).