A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

Journal of Community Genetics

Volumn 1, Issue 3, 2010, Pages 149-157

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

^a MURDOCH UNIVERSITY   (Australia)

^b Thalassemia Working Group   (India)

^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; Consanguinity; Endogamy; India; Mutation profiles; Pakistan; South Asia; Sri Lanka

Indexed keywords

ARTICLE; BETA THALASSEMIA; COUNSELING; GENE FREQUENCY; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HUMAN; INDIA; MAJOR CLINICAL STUDY; MASS SCREENING; MUTATIONAL ANALYSIS; PAKISTAN; POPULATION GENETICS; POPULATION MIGRATION; PRIORITY JOURNAL; RELIGION; SRI LANKA;

EID: 79952363782     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-010-0026-9     Document Type: Article

References (42)

1. Ahmed T, Ali SM, Aliaga A, Arnold F, Ayub M, Bhatti MH, Bicego G, Hasan KZ, Hashmi SS, Mallick MD, Rukanuddin AR, Sathar Z, Shah NM, Sultan M (1992) Pakistan National Demographic and Health Survey 1990/91. Islamabad and Columbia MD, National Institute of Population Studies and Macro International
2. Ahmed S, Petrou M, Saleem M (1996) Molecular genetics of betathalassaemia in Pakistan: A basis for prenatal diagnosis. Brit J Haematol 94:476-482 (Pubitemid 26284070)
3. Ayub Q, Tyler-Smith C (2009) Genetic variation in South Asia: Assessing the influences of geography, language and ethnicity for understanding history and disease risk. Brief Func Genom Proteom 8:395-404
4. Baig SM, Azhar A, Hassan H, Baig JM, AslamM, Ud DinMA, Qureshi JA, Zaman T (2006) Prenatal diagnosis of betα-thalassemia in Southern Punjab, Pakistan. Prenat Diag 26:903-905 (Pubitemid 44671039)
5. Bashyam MD, Bashyam L, Gorinabele R, Sangal MGV, Rama Devi AR (2004) Molecular genetic analysis of β-thalassemia in South India reveals rare mutations in the β-globin gene. J Hum Genet 49:408-413 (Pubitemid 39263668)
6. Baysal E (2005) Molecular heterogeneity of betα-thalassaemia in the United Arab Emirates. Commun Genet 8:35-39 (Pubitemid 40529175)
7. Bittles AH (2002) Endogamy, consanguinity and community genetics. J Genet 81:91-98 (Pubitemid 36589204)
8. Bittles AH (2008) A community genetics perspective on consanguineous marriage. Commun Genet 11:324-330
9. Bittles AH, Black ML (2010) Consanguinity, human evolution and complex diseases. Proc Natl Acad Sci USA 107:1779-1786
10. 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 (Pubitemid 30168038)
11. Byass P (2008) The unequal world of health data. PLoS Med 6: E1000155
12. Chan M, Kazatchkine M, Lob-Levyt J, Obaid T, Schweitzer J, Sidibe M, Veneman A, Yamada T (2010) Meeting the demand for results and accountability: A call for action on health data from eight global health agencies. PLoS Med 7:e10000223
13. 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
14. Colah R, Gorakshakar A, Phanasgaonkar S, D'Souza NA, Surve R, Sawant P, Master D, Patel R, Ghosh K, Mohanty D (2010) Epidemiology of β-thalassaemia in Western India: Mapping the frequencies and mutations in sub-regions of Maharashtra and Gujurat. Brit J Haematol 149:739-747
15. Daar S, Hussein HM, Merghoub T, Krishnamoorthy R (1998) Spectrum of β-thalassemias in Oman. Ann NYAcad Sci 850:404-406
16. Eshghi P, Zadeh-Vakili A, Rashidi A, Miri-Moghadam E (2008) An unusually frequent β-thalassemia mutation in an Iranian province. Hemoglobin 32:387-392
17. Fisher CA, Premawardhena A, De Silva S, Perera G, Rajapaksa S, Oliveri NA, Old JM, Weatherall DJ, The Sri Lanka Thalassaemia Study Group (2003) The molecular basis for the β-thalassaemias in Sri Lanka. Brit J Haematol 121:662-671 (Pubitemid 36645391)
18. 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 (Pubitemid 41098835)
19. Ghani R, Manji MA, Ahmed N (2002) Hemoglobinopathies amongst five major ethnic groups in Karachi, Pakistan. Southeast Asian J Trop Med Pub Hlth 33:855-861
20. Hassan SM, Hamza N, Al-Lawatiya FJ, Mohammed AJ, Harteveld CL, Rajab A, Giordano PC (2010) Extended molecular spectrum of β- and α-thalassemia in Oman. Hemoglobin 34:127-134
21. Hussain R (2005) The effect of religious, cultural and social identity on population genetic structure among Muslims in Pakistan. Ann Hum Biol 32:145-153 (Pubitemid 40995615)
22. Khan SN, Riazuddin S (1998) Molecular characterization of β-thalassemia in Pakistan. Hemoglobin 22:333-345
23. Modell B, Darlinson M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull WHO 86:480-487 (Pubitemid 351821761)
24. 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
25. Ne-Win, Harano T, Harano K, Myint T-T, Rai-Mra, Okada S, Shimono K, Aye-Aye-Myint (2002) A wider molecular spectrum of β-thalassaemia in Myanmar. Br J Haematol 117:988-992 (Pubitemid 34639266)
26. Nicolini B (2006) The Makran-Baluch-African network in Zanzibar and East Africa during the XIXth Century. Afr & Asian Stud 5:347-370 (Pubitemid 46128214)
27. Nicolini B (2007) The Baluch role in the Persian gulf during the nineteenth and twentieth centuries. Comp Studies of S Asia, Africa & Mid East 27:84-396
28. Nishank SS, Ranjit M, Kar SK, Chhotray GP (2009) Molecular variants and clinical importance of β-thalassemia traits found in the state of Orissa, India. Haematol 14:290-296
29. Petrou M (2010) Screening for beta thalassaemia. Ind J Hum Genet 16:1-5
30. PRB (2010) World population data sheet. Population Reference Bureau, Washington
31. Quaife R, Al-Gazali L, Abbes S, Fitzgerald P, Fitches A, Valler D, Old JM (1994) The spectrum of β-thalassaemia mutations in the UAE national population. J Med Genet 31:59-61 (Pubitemid 24037949)
32. Rajab A, Patton MA (1997) Major factors determining the frequencies of hemoglobinopathies in Oman. Am J Med Genet 71:240-242
33. Reid RM (1976) Effects of consanguineous marriage and inbreeding on couple fertility and offspring mortality in rural Sri Lanka. Hum Biol 48:139-146
34. Sinha S, Black ML, Agarwal S, Colah R, Das R, Ryan K, Bellgard M, Bittles AH (2009) Profiling β-thalassaemia mutations in India at state and regional levels: Implications for genetic education, screening and counselling programmes. HUGO J 3:51-62
35. Spear P (1970) A history of India 2. Penguin Books, London
36. Than AM, Harano T, Harano K, Myiny AA, Ogino T, Okada S (2005) High incidence of α-thalassaemia, hemoglobin E, and glucose-6- phosphate dehydrogenase deficiency in populations of malariaendemic southern Shan state, Myanmar. Intl J Hematol 82: 119-123 (Pubitemid 41233170)
37. Thapar R (1966) A history of India 1. Penguin Books, London
38. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991) The spectrum of β-thalassaemia mutations on the Indian subcontinent: The basis for prenatal diagnosis. Brit J Haematol 78:242-247
39. Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of β-thalassemia mutations in India. Hum Genet 100:109-113 (Pubitemid 27309664)
40. White JM, Christie BS, Nam D, Daar S, Higgs DR (1993) Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis. J Med Genet 30:396-400 (Pubitemid 23169275)
41. WHO (2008) Joint WHO-TIF meeting on management of haemoglobin disorders (2nd: 2008: Nicosia, Cyprus) Geneva, World Health Organization. (NLM classification: WH 190)
42. Zahed L (2001) The spectrum of β-thalassemia mutations in the Arab Populations. J Biomed & Biotech 1:129-132 (Pubitemid 46842819)