{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:13:48Z","timestamp":1791378828742,"version":"4.3.2"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1007\/s12687-010-0026-9","type":"journal-article","created":{"date-parts":[[2010,10,13]],"date-time":"2010-10-13T12:17:20Z","timestamp":1286972240000},"page":"149-157","source":"Crossref","is-referenced-by-count":34,"title":["A descriptive profile of \u03b2-thalassaemia mutations in India, Pakistan and Sri Lanka"],"prefix":"10.1007","volume":"1","author":[{"given":"M. L.","family":"Black","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Colah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bellgard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. H.","family":"Bittles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,10,10]]},"reference":[{"key":"26_CR1","unstructured":"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"},{"key":"26_CR2","first-page":"476","volume":"94","author":"S Ahmed","year":"1996","unstructured":"Ahmed S, Petrou M, Saleem M (1996) Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis. Brit J Haematol 94:476\u2013482","journal-title":"Brit J Haematol"},{"key":"26_CR3","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/bfgp\/elp015","volume":"8","author":"Q Ayub","year":"2009","unstructured":"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\u2013404","journal-title":"Brief Func Genom Proteom"},{"key":"26_CR4","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1002\/pd.1523","volume":"26","author":"SM Baig","year":"2006","unstructured":"Baig SM, Azhar A, Hassan H, Baig JM, Aslam M, Ud Din MA, Qureshi JA, Zaman T (2006) Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan. Prenat Diag 26:903\u2013905","journal-title":"Prenat Diag"},{"key":"26_CR5","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/s10038-004-0169-9","volume":"49","author":"MD Bashyam","year":"2004","unstructured":"Bashyam MD, Bashyam L, Gorinabele R, Sangal MGV, Rama Devi AR (2004) Molecular genetic analysis of \u03b2-thalassemia in South India reveals rare mutations in the \u03b2-globin gene. J Hum Genet 49:408\u2013413","journal-title":"J Hum Genet"},{"key":"26_CR6","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000083336","volume":"8","author":"E Baysal","year":"2005","unstructured":"Baysal E (2005) Molecular heterogeneity of beta-thalassaemia in the United Arab Emirates. Commun Genet 8:35\u201339","journal-title":"Commun Genet"},{"key":"26_CR7","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF02715905","volume":"81","author":"AH Bittles","year":"2002","unstructured":"Bittles AH (2002) Endogamy, consanguinity and community genetics. J Genet 81:91\u201398","journal-title":"J Genet"},{"key":"26_CR8","first-page":"324","volume":"11","author":"AH Bittles","year":"2008","unstructured":"Bittles AH (2008) A community genetics perspective on consanguineous marriage. Commun Genet 11:324\u2013330","journal-title":"Commun Genet"},{"key":"26_CR9","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1073\/pnas.0906079106","volume":"107","author":"AH Bittles","year":"2010","unstructured":"Bittles AH, Black ML (2010) Consanguinity, human evolution and complex diseases. Proc Natl Acad Sci USA 107:1779\u20131786","journal-title":"Proc Natl Acad Sci USA"},{"key":"26_CR10","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1080\/030144600282271","volume":"27","author":"AH Bittles","year":"2000","unstructured":"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\u2013171","journal-title":"Ann Hum Biol"},{"key":"26_CR11","doi-asserted-by":"crossref","first-page":"e1000155","DOI":"10.1371\/journal.pmed.1000155","volume":"6","author":"P Byass","year":"2008","unstructured":"Byass P (2008) The unequal world of health data. PLoS Med 6:e1000155","journal-title":"PLoS Med"},{"key":"26_CR12","first-page":"e10000223","volume":"7","author":"M Chan","year":"2010","unstructured":"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","journal-title":"PLoS Med"},{"key":"26_CR13","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.bcmd.2008.12.006","volume":"42","author":"R Colah","year":"2009","unstructured":"Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K (2009) Regional heterogeneity of \u03b2-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis 42:241\u2013246","journal-title":"Blood Cells Mol Dis"},{"key":"26_CR14","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1111\/j.1365-2141.2010.08131.x","volume":"149","author":"R Colah","year":"2010","unstructured":"Colah R, Gorakshakar A, Phanasgaonkar S, D\u2019Souza NA, Surve R, Sawant P, Master D, Patel R, Ghosh K, Mohanty D (2010) Epidemiology of \u03b2-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujurat. Brit J Haematol 149:739\u2013747","journal-title":"Brit J Haematol"},{"key":"26_CR15","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/j.1749-6632.1998.tb10504.x","volume":"850","author":"S Daar","year":"1998","unstructured":"Daar S, Hussein HM, Merghoub T, Krishnamoorthy R (1998) Spectrum of \u03b2-thalassemias in Oman. Ann NYAcad Sci 850:404\u2013406","journal-title":"Ann NYAcad Sci"},{"key":"26_CR16","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1080\/03630260701758932","volume":"32","author":"P Eshghi","year":"2008","unstructured":"Eshghi P, Zadeh-Vakili A, Rashidi A, Miri-Moghadam E (2008) An unusually frequent \u03b2-thalassemia mutation in an Iranian province. Hemoglobin 32:387\u2013392","journal-title":"Hemoglobin"},{"key":"26_CR17","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1046\/j.1365-2141.2003.04346.x","volume":"121","author":"CA Fisher","year":"2003","unstructured":"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 \u03b2-thalassaemias in Sri Lanka. Brit J Haematol 121:662\u2013671","journal-title":"Brit J Haematol"},{"key":"26_CR18","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/ajh.20445","volume":"79","author":"G Garewal","year":"2005","unstructured":"Garewal G, Das R, Ahluwalia J, Marwaha RK, Varma S (2005) Nucleotide \u221288 (C\u2013T) promoter mutation is a common \u03b2-thalassemia mutation in the Jat Sikhs of Punjab, India. Am J Hematol 79:252\u2013256","journal-title":"Am J Hematol"},{"key":"26_CR19","first-page":"855","volume":"33","author":"R Ghani","year":"2002","unstructured":"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\u2013861","journal-title":"Southeast Asian J Trop Med Pub Hlth"},{"key":"26_CR20","doi-asserted-by":"crossref","first-page":"127","DOI":"10.3109\/03630261003673147","volume":"34","author":"SM Hassan","year":"2010","unstructured":"Hassan SM, Hamza N, Al-Lawatiya FJ, Mohammed AJ, Harteveld CL, Rajab A, Giordano PC (2010) Extended molecular spectrum of \u03b2- and \u03b1-thalassemia in Oman. Hemoglobin 34:127\u2013134","journal-title":"Hemoglobin"},{"key":"26_CR21","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1080\/03014460500075167","volume":"32","author":"R Hussain","year":"2005","unstructured":"Hussain R (2005) The effect of religious, cultural and social identity on population genetic structure among Muslims in Pakistan. Ann Hum Biol 32:145\u2013153","journal-title":"Ann Hum Biol"},{"key":"26_CR22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.3109\/03630269809071528","volume":"22","author":"SN Khan","year":"1998","unstructured":"Khan SN, Riazuddin S (1998) Molecular characterization of \u03b2-thalassemia in Pakistan. Hemoglobin 22:333\u2013345","journal-title":"Hemoglobin"},{"key":"26_CR23","first-page":"480","volume":"86","author":"B Modell","year":"2008","unstructured":"Modell B, Darlinson M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull WHO 86:480\u2013487","journal-title":"Bull WHO"},{"key":"26_CR24","unstructured":"Mohanty D, Colah R, Gorakshakar A (eds) (2008) Jai Vigyan S & T mission project on community control of thalassaemia syndromes\u2014awareness, screening, genetic counselling and prevention. A national multicentric task force study of ICMR (2000\u20132005), Indian Council of Medical Research, New Delhi"},{"key":"26_CR25","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1046\/j.1365-2141.2002.03539.x","volume":"117","author":"Ne-Win","year":"2002","unstructured":"Ne-Win, Harano T, Harano K, Myint T-T, Rai-Mra, Okada S, Shimono K, Aye-Aye-Myint (2002) A wider molecular spectrum of \u03b2-thalassaemia in Myanmar. Br J Haematol 117:988\u2013992","journal-title":"Br J Haematol"},{"key":"26_CR26","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1163\/156920906779134830","volume":"5","author":"B Nicolini","year":"2006","unstructured":"Nicolini B (2006) The Makran\u2013Baluch\u2013African network in Zanzibar and East Africa during the XIXth Century. Afr & Asian Stud 5:347\u2013370","journal-title":"Afr & Asian Stud"},{"key":"26_CR27","first-page":"84","volume":"27","author":"B Nicolini","year":"2007","unstructured":"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\u2013396","journal-title":"Comp Studies of S Asia, Africa & Mid East"},{"key":"26_CR28","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1179\/102453309X439845","volume":"14","author":"SS Nishank","year":"2009","unstructured":"Nishank SS, Ranjit M, Kar SK, Chhotray GP (2009) Molecular variants and clinical importance of \u03b2-thalassemia traits found in the state of Orissa, India. Haematol 14:290\u2013296","journal-title":"Haematol"},{"key":"26_CR29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4103\/0971-6866.64934","volume":"16","author":"M Petrou","year":"2010","unstructured":"Petrou M (2010) Screening for beta thalassaemia. Ind J Hum Genet 16:1\u20135","journal-title":"Ind J Hum Genet"},{"key":"26_CR30","volume-title":"World population data sheet","author":"PRB","year":"2010","unstructured":"PRB (2010) World population data sheet. Population Reference Bureau, Washington"},{"key":"26_CR31","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.31.1.59","volume":"31","author":"R Quaife","year":"1994","unstructured":"Quaife R, Al-Gazali L, Abbes S, Fitzgerald P, Fitches A, Valler D, Old JM (1994) The spectrum of \u03b2-thalassaemia mutations in the UAE national population. J Med Genet 31:59\u201361","journal-title":"J Med Genet"},{"key":"26_CR32","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/(SICI)1096-8628(19970808)71:2<240::AID-AJMG26>3.0.CO;2-D","volume":"71","author":"A Rajab","year":"1997","unstructured":"Rajab A, Patton MA (1997) Major factors determining the frequencies of hemoglobinopathies in Oman. Am J Med Genet 71:240\u2013242","journal-title":"Am J Med Genet"},{"key":"26_CR33","first-page":"139","volume":"48","author":"RM Reid","year":"1976","unstructured":"Reid RM (1976) Effects of consanguineous marriage and inbreeding on couple fertility and offspring mortality in rural Sri Lanka. Hum Biol 48:139\u2013146","journal-title":"Hum Biol"},{"key":"26_CR34","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s11568-010-9132-3","volume":"3","author":"S Sinha","year":"2009","unstructured":"Sinha S, Black ML, Agarwal S, Colah R, Das R, Ryan K, Bellgard M, Bittles AH (2009) Profiling \u03b2-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. HUGO J 3:51\u201362","journal-title":"HUGO J"},{"key":"26_CR35","volume-title":"A history of India 2","author":"P Spear","year":"1970","unstructured":"Spear P (1970) A history of India 2. Penguin Books, London"},{"key":"26_CR36","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1532\/IJH97.05028","volume":"82","author":"AM Than","year":"2005","unstructured":"Than AM, Harano T, Harano K, Myiny AA, Ogino T, Okada S (2005) High incidence of \u03b1-thalassaemia, hemoglobin E, and glucose-6-phosphate dehydrogenase deficiency in populations of malaria-endemic southern Shan state, Myanmar. Intl J Hematol 82:119\u2013123","journal-title":"Intl J Hematol"},{"key":"26_CR37","volume-title":"A history of India 1","author":"R Thapar","year":"1966","unstructured":"Thapar R (1966) A history of India 1. Penguin Books, London"},{"key":"26_CR38","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/j.1365-2141.1991.tb04423.x","volume":"78","author":"NY Varawalla","year":"1991","unstructured":"Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991) The spectrum of \u03b2-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Brit J Haematol 78:242\u2013247","journal-title":"Brit J Haematol"},{"key":"26_CR39","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s004390050475","volume":"100","author":"IC Verma","year":"1997","unstructured":"Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of \u03b2-thalassemia mutations in India. Hum Genet 100:109\u2013113","journal-title":"Hum Genet"},{"key":"26_CR40","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jmg.30.5.396","volume":"30","author":"JM White","year":"1993","unstructured":"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\u2013400","journal-title":"J Med Genet"},{"key":"26_CR41","unstructured":"WHO (2008) Joint WHO\u2013TIF meeting on management of haemoglobin disorders (2nd: 2008: Nicosia, Cyprus) Geneva, World Health Organization. (NLM classification: WH 190)"},{"key":"26_CR42","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1155\/S1110724301000298","volume":"1","author":"L Zahed","year":"2001","unstructured":"Zahed L (2001) The spectrum of \u03b2-thalassemia mutations in the Arab Populations. J Biomed & Biotech 1:129\u2013132","journal-title":"J Biomed & Biotech"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-010-0026-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12687-010-0026-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-010-0026-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T14:17:34Z","timestamp":1559485054000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12687-010-0026-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["26"],"URL":"https:\/\/doi.org\/10.1007\/s12687-010-0026-9","relation":{},"ISSN":["1868-310X","1868-6001"],"issn-type":[{"value":"1868-310X","type":"print"},{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}