{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:15:52Z","timestamp":1793826952624,"version":"4.6.1"},"reference-count":91,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T00:00:00Z","timestamp":1687737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016471","name":"Agios Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016471","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha\u2010 and beta\u2010thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1, 2000, to September 21, 2021. Of 2093 unique records identified, 69 studies reported across 70 publications met eligibility criteria, including 6 records identified from bibliography searches. Thalassemia prevalence estimates varied across countries and even within countries. Across 23 population\u2010based studies reporting clinically significant alpha\u2010thalassemia (e.g., hemoglobin H disease and hemoglobin Bart's hydrops fetalis) and\/or beta\u2010thalassemia (beta\u2010thalassemia intermedia, major, and\/or hemoglobin E\/beta\u2010thalassemia), prevalence estimates per 100\u2009000 people ranged from 0.2 in Spain (over 2014\u20132017) to 27.2 in Greece (2010\u20132015) for combined beta\u2010 plus alpha\u2010thalassemia; from 0.03 in Spain (2014\u20132017) to 4.5 in Malaysia (2007\u20132018) for alpha\u2010thalassemia; and from 0.2 in Spain (2014\u20132017) to 35.7 to 49.6 in Iraq (2003\u20132018) for beta\u2010thalassemia. Overall, the estimated prevalence of thalassemia followed the predicted pattern of being higher in the Middle East, Asia, and Mediterranean than in Europe or North America. However, population\u2010based prevalence estimates were not found for many countries, and there was heterogeneity in case definitions, diagnostic methodology, type of thalassemia reported, and details on transfusion requirements. Limited population\u2010based birth prevalence data were found. Twenty\u2010seven studies reported thalassemia prevalence from non\u2013population\u2010based samples. Results from such studies likely do not have countrywide generalizability as they tended to be from highly specific groups. To fully understand the global prevalence of thalassemia, up\u2010to\u2010date, population\u2010based epidemiological data are needed for many countries.<\/jats:p>","DOI":"10.1002\/ajh.27006","type":"journal-article","created":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T05:15:39Z","timestamp":1687756539000},"page":"1436-1451","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":104,"title":["Epidemiology of clinically significant forms of alpha\u2010 and\n                    <scp>beta\u2010thalassemia<\/scp>\n                    : A global map of evidence and gaps"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3935-903X","authenticated-orcid":false,"given":"Khaled M.","family":"Musallam","sequence":"first","affiliation":[{"name":"Thalassemia Center, Burjeel Medical City  Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Lombard","sequence":"additional","affiliation":[{"name":"Agios Pharmaceuticals  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-3536","authenticated-orcid":false,"given":"Kristin D.","family":"Kistler","sequence":"additional","affiliation":[{"name":"Xcenda LLC  Carrollton Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Arregui","sequence":"additional","affiliation":[{"name":"Xcenda LLC  Carrollton Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keely S.","family":"Gilroy","sequence":"additional","affiliation":[{"name":"Agios Pharmaceuticals  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Chamberlain","sequence":"additional","affiliation":[{"name":"Agios Pharmaceuticals  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Zagadailov","sequence":"additional","affiliation":[{"name":"Agios Pharmaceuticals  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7627-154X","authenticated-orcid":false,"given":"Kimberly","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Xcenda LLC  Carrollton Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8515-2238","authenticated-orcid":false,"given":"Ali T.","family":"Taher","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31822-6"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(22)00536-0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra2021838"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1404415"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.16636"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2021-145290"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2019.12.003"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-07-1975"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2019-125676"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-020-00473-0"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01791-8"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26316"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26428"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26055"},{"key":"e_1_2_10_16_1","unstructured":"Genetic and Rare Diseases Information Center.https:\/\/rarediseases.info.nih.gov\/diseases\/7756\/thalassemia. Accessed April 5 2022."},{"issue":"2","key":"e_1_2_10_17_1","first-page":"11","article-title":"Thalassaemia is a tropical disease","volume":"10","author":"Kotila TR","year":"2012","journal-title":"Ann Ib Postgrad Med"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13512"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71"},{"key":"e_1_2_10_20_1","volume-title":"The Global thalassaemia review 2021","author":"Eleftheriou A","year":"2021"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.81"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.HS9.0000561436.83737.79"},{"issue":"12","key":"e_1_2_10_23_1","first-page":"1168","article-title":"Study of hemoglobinopathies in Oman through a national register","volume":"21","author":"Rajab AG","year":"2000","journal-title":"Saudi Med J"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.40580"},{"key":"e_1_2_10_25_1","unstructured":"UK.Thalassaemia patients by age group from the: National Haemoglobinopathy Registry. Annual data report.2019https:\/\/nhr.mdsas.com\/wp\u2010content\/uploads\/2021\/01\/2020_12_NHR_AnnualReport201920_Final.pdf"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2020.1831530"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.15537\/smj.2021.42.7.20210273"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-0843"},{"key":"e_1_2_10_29_1","first-page":"5635","article-title":"Treatment patterns and costs of transfusion and chelation in commercially\u2010insured and medicaid patients with transfusion\u2010dependent \u03b2\u2010thalassemia","volume":"130","author":"Paramore C","year":"2017","journal-title":"Blood"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.2147\/CLEP.S250251"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17091"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.018051"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.09.2610"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-018-3493-4"},{"issue":"1","key":"e_1_2_10_35_1","first-page":"3368","article-title":"Direct medical care costs associated with \u03b2\u2010thalassemia care in Italy","volume":"130","author":"Angelucci E","year":"2017","journal-title":"Blood"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-200037735"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26322"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.medcli.2019.10.011"},{"issue":"11","key":"e_1_2_10_39_1","first-page":"1006","article-title":"A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom","volume":"79","author":"Modell B","year":"2001","journal-title":"Bull World Health Organ"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2020-037974"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3180437e02"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2019.1628774"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sste.2020.100389"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2017.1354877"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tracli.2020.08.008"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-99-112812"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1258\/096914106777589650"},{"key":"e_1_2_10_48_1","first-page":"S74","article-title":"Prevalence of hemoglobinopathies among Ontario children after the implementation of universal hemoglobinopathy screening","volume":"64","author":"Simpson E","year":"2017","journal-title":"Pediatr Blood Cancer"},{"issue":"2","key":"e_1_2_10_49_1","first-page":"124","article-title":"Secular trends in the national and provincial births of new thalassemia cases in Iran from 2001 to 2006","volume":"37","author":"Dehshal MH","year":"2013","journal-title":"Hemoglobin"},{"key":"e_1_2_10_50_1","article-title":"Spectrum of haemoglobinopathies: a hospital based study in Uttarakhand","volume":"11","author":"Nayar S","year":"2017","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-017-0779-6"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.04.003"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.3945\/jn.114.198945"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2458-14-905"},{"key":"e_1_2_10_55_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-200037743"},{"key":"e_1_2_10_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00791.x"},{"key":"e_1_2_10_57_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.724196"},{"key":"e_1_2_10_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.02.014"},{"key":"e_1_2_10_59_1","article-title":"Spectrum of hemoglobinopathies diagnosed by HPLC in high prevalence area of North Maharashtra","volume":"3","author":"Vasaikar MS","year":"2012","journal-title":"Int J Pharma Bio Sci"},{"key":"e_1_2_10_60_1","doi-asserted-by":"publisher","DOI":"10.4103\/0377-4929.59185"},{"key":"e_1_2_10_61_1","doi-asserted-by":"publisher","DOI":"10.4103\/jfmpc.jfmpc_274_17"},{"key":"e_1_2_10_62_1","doi-asserted-by":"publisher","DOI":"10.2147\/RMHP.S317852"},{"key":"e_1_2_10_63_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2020.1848859"},{"key":"e_1_2_10_64_1","doi-asserted-by":"publisher","DOI":"10.1080\/03014460500228741"},{"issue":"1","key":"e_1_2_10_65_1","first-page":"51","article-title":"Hemoglobin anomalies at the university hospital center in Lome, Togo","volume":"62","author":"Segbena AY","year":"2002","journal-title":"Med Trop (Mars)"},{"issue":"7","key":"e_1_2_10_66_1","first-page":"666","article-title":"Hemoglobin H disease in the eastern region of Saudi Arabia","volume":"21","author":"Qadri MI","year":"2000","journal-title":"Saudi Med J"},{"issue":"1","key":"e_1_2_10_67_1","first-page":"6","article-title":"The results of hemoglobinopathy screening in Hatay, the southern part of Turkey","volume":"7","author":"Oktay G","year":"2016","journal-title":"J Clin Anal Med"},{"issue":"02","key":"e_1_2_10_68_1","article-title":"Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014\u20102015","volume":"22","author":"Rosenfeld LG","year":"2019","journal-title":"Rev Bras Epidemiol"},{"key":"e_1_2_10_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)32975-9"},{"key":"e_1_2_10_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-012-1465-7"},{"key":"e_1_2_10_71_1","doi-asserted-by":"publisher","DOI":"10.2471\/BLT.06.036673"},{"key":"e_1_2_10_72_1","doi-asserted-by":"publisher","DOI":"10.1177\/0969141314548203"},{"key":"e_1_2_10_73_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2021.0242"},{"key":"e_1_2_10_74_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2016-013367"},{"key":"e_1_2_10_75_1","doi-asserted-by":"publisher","DOI":"10.47102\/annals-acadmedsg.V48N1p5"},{"key":"e_1_2_10_76_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2020-206588"},{"key":"e_1_2_10_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-018-00222-2"},{"key":"e_1_2_10_78_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17207354"},{"key":"e_1_2_10_79_1","doi-asserted-by":"publisher","DOI":"10.1097\/HS9.0000000000000208"},{"key":"e_1_2_10_80_1","doi-asserted-by":"publisher","DOI":"10.1177\/2050312115613097"},{"key":"e_1_2_10_81_1","doi-asserted-by":"publisher","DOI":"10.3109\/07853890.2015.1091942"},{"key":"e_1_2_10_82_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2017.1289101"},{"key":"e_1_2_10_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.218"},{"key":"e_1_2_10_84_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630260701297204"},{"key":"e_1_2_10_85_1","doi-asserted-by":"publisher","DOI":"10.4103\/0256-4947.81527"},{"key":"e_1_2_10_86_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7040083"},{"key":"e_1_2_10_87_1","doi-asserted-by":"publisher","DOI":"10.15585\/mmwr.mm6936a7"},{"key":"e_1_2_10_88_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.40998"},{"key":"e_1_2_10_89_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.90"},{"key":"e_1_2_10_90_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.100748"},{"key":"e_1_2_10_91_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2020.1780252"},{"key":"e_1_2_10_92_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2022.2099285"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.27006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T00:11:27Z","timestamp":1746403887000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.27006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,26]]},"references-count":91,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ajh.27006"],"URL":"https:\/\/doi.org\/10.1002\/ajh.27006","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,26]]},"assertion":[{"value":"2022-12-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}