{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:44:57Z","timestamp":1789706697400,"version":"4.0.1"},"reference-count":141,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000921","name":"COST","doi-asserted-by":"crossref","award":["COST Action HELIOS CA22119"],"award-info":[{"award-number":["COST Action HELIOS CA22119"]}],"id":[{"id":"10.13039\/501100000921","id-type":"DOI","asserted-by":"crossref"}]},{"award":["COST Action HELIOS CA22119"],"award-info":[{"award-number":["COST Action HELIOS CA22119"]}],"id":[{"id":"https:\/\/ror.org\/01bstzn19","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Haemoglobinopathies remain a major public health challenge, predominantly in endemic regions. Increasing migration has extended their prevalence in previously non-endemic areas, complicating early detection and prevention. As part of the HELIOS CA22119 COST Action Working Group 1, this narrative review critically examines established and emerging laboratory techniques for haemoglobinopathy carrier detection. It also explores diagnostic limitations, regional disparities, and opportunities for global harmonisation to support early detection, prevention, and equitable care. A literature search of MEDLINE, PubMed, Scopus, and EMBASE (2014\u20132024) identified studies on the screening, diagnosis, and prevention of haemoglobinopathies. Findings were synthesised across three domains: (1) preventive strategies, (2) carrier screening methods, and (3) prenatal diagnostic approaches. Advances in molecular technologies have improved diagnostic sensitivity and specificity. However, conventional haematological approaches, particularly complete blood count and haemoglobin typing, remain essential and cost-effective first-line tools. Key challenges include unequal access to advanced diagnostics and the lack of standardised protocols across regions. Strengthening prevention requires coordinated global efforts to promote accessible, accurate, and standardised diagnostic approaches tailored to regional genomic, economic, and healthcare contexts. Early and equitable carrier detection, combined with effective prenatal diagnosis, is critical to reducing the global burden and improving health outcomes in both endemic and emerging regions.<\/jats:p>","DOI":"10.3390\/ijms27093916","type":"journal-article","created":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:09:33Z","timestamp":1777388973000},"page":"3916","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4202-2438","authenticated-orcid":false,"given":"Norafiza","family":"Mohd Yasin","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics\/LDGA, Leiden University Medical Center, 2300 RC Leiden, The Netherlands"},{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Setia Alam 40170, Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4418-7965","authenticated-orcid":false,"given":"Sotiroula","family":"Chatzimatthaiou","sequence":"additional","affiliation":[{"name":"Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5777-0845","authenticated-orcid":false,"given":"Adela","family":"Perolla","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine, 1005 Tirana, Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adoracion","family":"Blanco Alvarez","sequence":"additional","affiliation":[{"name":"Haematology Molecular Genetics Unit, Department of haematology, Hospital Universitari Vall d\u2019Hebron (HUVH), Experimental Haematology, Vall d\u2019Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6394-658X","authenticated-orcid":false,"given":"Miguel","family":"Brito","sequence":"additional","affiliation":[{"name":"Health and Technology Research Center, Escola Superior de Sa\u00fade de Lisboa, Instituto Polit\u00e9cnico de Lisboa, 1990-096 Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7739-1674","authenticated-orcid":false,"given":"Ghada","family":"El-Kamah","sequence":"additional","affiliation":[{"name":"Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6982-5498","authenticated-orcid":false,"given":"Merita","family":"Xhetani","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Natural Sciences, University of Tirana, 1009 Tirana, Albania"},{"name":"Center of Molecular Diagnostic and Genetics Research, University Hospital Obstetrics and Gynecology \u201cMbret\u00ebresha Geraldin\u00eb\u201d, 1045 Tirana, Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2681-4355","authenticated-orcid":false,"given":"Petros","family":"Kountouris","sequence":"additional","affiliation":[{"name":"Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2546-6478","authenticated-orcid":false,"given":"Coralea","family":"Stephanou","sequence":"additional","affiliation":[{"name":"Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1860-5628","authenticated-orcid":false,"given":"Jan","family":"Traeger-Synodinos","sequence":"additional","affiliation":[{"name":"School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/ijlh.13885","article-title":"The Hemoglobinopathies, Molecular Disease Mechanisms and Diagnostics","volume":"44","author":"Harteveld","year":"2022","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"480","DOI":"10.2471\/BLT.06.036673","article-title":"Global Epidemiology of Haemoglobin Disorders and Derived Service Indicators","volume":"86","author":"Modell","year":"2008","journal-title":"Bull. World Health Organ."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/humu.9479","article-title":"HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations: 2007 Update","volume":"28","author":"Giardine","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1080\/03630269.2020.1717757","article-title":"ITHANET: An Information and Database Community Portal for Hemoglobinopathies","volume":"43","author":"Stephanou","year":"2019","journal-title":"Hemoglobin"},{"key":"ref_5","unstructured":"Wyper, G.M.A. (2024). Global Burden of Disease Collaborative Network Global Burden of Disease Study 2021 (GBD 2021), Institute for Health Metrics and Evaluation (IHME). Population Health Metrics."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/ejh.13512","article-title":"Changing Patterns in the Epidemiology of \u03b2-Thalassemia","volume":"105","author":"Kattamis","year":"2020","journal-title":"Eur. J. Haematol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1515\/cclm-2018-0647","article-title":"Thalassemia in the Laboratory: Pearls, Pitfalls, and Promises","volume":"57","author":"Aliyeva","year":"2018","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_8","unstructured":"(2025, November 20). IthaMaps. Available online: https:\/\/www.ithanet.eu\/db\/ithamaps."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1111\/bjh.12917","article-title":"Evaluation of the Validity of Hb A2 and Mean Corpuscular Haemoglobin Action Values in Antenatal Screening for Beta Thalassaemia Carriers in England","volume":"166","author":"Daniel","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/ejhg.2014.131","article-title":"EMQN Best Practice Guidelines for Molecular and Haematology Methods for Carrier Identification and Prenatal Diagnosis of the Haemoglobinopathies","volume":"23","author":"Harteveld","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Selvatici, R., Guida, V., Maffei, M., Irrera, M.A., Margutti, A., Bisceglia, P., Mogni, M., Melchionda, E., Stoico, G., and Grifone, N. (2024). Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs. Genes, 16.","DOI":"10.3390\/genes16010028"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e70258","DOI":"10.1002\/hem3.70258","article-title":"HELIOS Action: Advancing Research, Education, and Equity in Hemoglobinopathies across Europe and Beyond","volume":"9","author":"Chatzimatthaiou","year":"2025","journal-title":"HemaSphere"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1186\/s13643-016-0384-4","article-title":"Rayyan\u2014A Web and Mobile App for Systematic Reviews","volume":"5","author":"Ouzzani","year":"2016","journal-title":"Syst. Rev."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1749-6632.1998.tb10482.x","article-title":"Global Epidemiology of Hemoglobin Disorders","volume":"850","author":"Angastiniotis","year":"1998","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Economidou, E.C., Angastiniotis, M., Avraam, D., Soteriades, E.S., and Eleftheriou, A. (2024). Addressing Thalassaemia Management from Patients\u2019 Perspectives: An International Collaborative Assessment. Med. Kaunas Lith., 60.","DOI":"10.20944\/preprints202401.1111.v1"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1080\/03630269.2021.1872612","article-title":"The Prevention of Thalassemia Revisited: A Historical and Ethical Perspective by the Thalassemia International Federation","volume":"45","author":"Angastiniotis","year":"2021","journal-title":"Hemoglobin"},{"key":"ref_17","first-page":"e2021410","article-title":"Immigration and Screening Programs for Hemoglobinopathies in Italy, Spain and Turkey","volume":"92","author":"Canatan","year":"2021","journal-title":"Acta Bio-Med. Atenei Parm."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e27713","DOI":"10.1097\/MD.0000000000027713","article-title":"Molecular Characterization of Hemoglobinopathies and Thalassemias in Northern Guangdong Province, China","volume":"100","author":"Ma","year":"2021","journal-title":"Medicine"},{"key":"ref_19","first-page":"162","article-title":"Hematologic Features of Alpha Thalassemia Carriers","volume":"1","author":"Banihashemi","year":"2012","journal-title":"Int. J. Mol. Cell. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s13224-019-01220-8","article-title":"Can RBC Indices Be Used as Screening Test for Beta-Thalassemia in Indian Antenatal Women?","volume":"69","author":"Baliyan","year":"2019","journal-title":"J. Obstet. Gynaecol. India"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3572986","DOI":"10.1155\/2022\/3572986","article-title":"Hematological Parameters in Individuals with Beta Thalassemia Trait in South Sumatra, Indonesia","volume":"2022","author":"Sari","year":"2022","journal-title":"Anemia"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"240","DOI":"10.3109\/03630269.2015.1048808","article-title":"Clinical to Molecular Screening Paradigm for \u03b2-Thalassemia Carriers","volume":"39","author":"Youssef","year":"2015","journal-title":"Hemoglobin"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/jog.14222","article-title":"Optimal Cutoff of Mean Corpuscular Volume (MCV) for Screening of Alpha-Thalassemia 1 Trait","volume":"46","author":"Nunchai","year":"2020","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_24","first-page":"739","article-title":"Sensitivity and Specificity of Mean Corpuscular Hemoglobin (MCH): For Screening Alpha-Thalassemia-1 Trait and Beta-Thalassemia Trait","volume":"92","author":"Pranpanus","year":"2009","journal-title":"J. Med. Assoc. Thail."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1515\/cclm-2023-1006","article-title":"Reliability of Hemoglobin A2 Value as Measured by the Premier Resolution System for Screening of \u03b2-Thalassemia Carriers","volume":"62","author":"Satthakarn","year":"2024","journal-title":"Clin. Chem. Lab. Med."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Du, Y., Zhou, C., Wang, J., Yang, Y., and Liu, H. (2024). Screening for Thalassemia Carriers among the Han Population of Childbearing Age in Southwestern of China. Front. Genet., 15.","DOI":"10.3389\/fgene.2024.1356068"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1016\/j.jmoldx.2021.06.008","article-title":"A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)","volume":"23","author":"Liang","year":"2021","journal-title":"J. Mol. Diagn. JMD"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Hassan, S., Bahar, R., Johan, M.F., Mohamed Hashim, E.K., Abdullah, W.Z., Esa, E., Abdul Hamid, F.S., and Zulkafli, Z. (2023). Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia. Diagnostics, 13.","DOI":"10.3390\/diagnostics13030373"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Zulkeflee, R.H., Bahar, R., Abdullah, M., Mohd Radzi, M.A.R., Md Fauzi, A., and Hassan, R. (2023). Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience. Diagnostics, 13.","DOI":"10.3390\/diagnostics13081379"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"e2016015","DOI":"10.4084\/mjhid.2016.015","article-title":"Prevalence of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon","volume":"8","author":"Younes","year":"2016","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_31","unstructured":"Taher, A.T., Farmakis, D., Porter, J.B., Cappellini, M.D., and Musallam, K.M. (2025). THE VALUE OF PATIENTS\u2019 ENGAGEMENT: THE EXAMPLE OF THE THALASSAEMIA INTERNATIONAL FEDERATION. Guidelines for the Management of Transfusion-Dependent \u03b2-Thalassaemia (TDT), Thalassaemia International Federation."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3343\/kjlm.2011.31.3.138","article-title":"Detection of \u03b1-Thalassemia-1 Southeast Asian and Thai Type Deletions and \u03b2-Thalassemia 3.5-Kb Deletion by Single-Tube Multiplex Real-Time PCR with SYBR Green1 and High-Resolution Melting Analysis","volume":"31","author":"Pornprasert","year":"2011","journal-title":"Ann. Lab. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s12185-017-2306-1","article-title":"High-Resolution Melting Analysis for Prenatal Diagnosis of Beta-Thalassemia in Northern Thailand","volume":"106","author":"Charoenkwan","year":"2017","journal-title":"Int. J. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Velasco-Rodr\u00edguez, D., Blas, C., Alonso-Dom\u00ednguez, J.-M., Vega, G., Soto, C., Garc\u00eda-Raso, A., and Llamas-Sillero, P. (2017). Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. Int. J. Mol. Sci., 18.","DOI":"10.20944\/preprints201709.0100.v1"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"5","DOI":"10.47102\/annals-acadmedsg.V48N1p5","article-title":"Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore","volume":"48","author":"Lee","year":"2019","journal-title":"Ann. Acad. Med. Singap."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1111\/bjh.17671","article-title":"British Society for Haematology Guideline Management of Sickle Cell Disease in Pregnancy. A British Society for Haematology Guideline","volume":"194","author":"Pavord","year":"2021","journal-title":"Br. J. Haematol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e70095","DOI":"10.1002\/hem3.70095","article-title":"TIF Guidelines for the Management of Transfusion-Dependent \u03b2-Thalassemia","volume":"9","author":"Musallam","year":"2025","journal-title":"HemaSphere"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Periyavan, S., Kumar, S., Mamatha, G.N., Hegde, S., Jain, S., Dhanya, R., Agarwal, R.K., and Faulkner, L. (2025). HPLC First Approach in Detecting Thalassemia and Other Common Hemoglobinopathies Is More Cost and Time Effective. Front. Hematol., 4.","DOI":"10.3389\/frhem.2025.1461498"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Huang, T.-L., Zhang, T.-Y., Song, C.-Y., Lin, Y.-B., Sang, B.-H., Lei, Q.-L., Lv, Y., Yang, C.-H., Li, N., and Tian, X. (2020). Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province. Front. Pediatr., 8.","DOI":"10.3389\/fped.2020.00159"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1136\/jclinpath-2019-206339","article-title":"Combined Use of Gap-PCR and next-Generation Sequencing Improves Thalassaemia Carrier Screening among Premarital Adults in China","volume":"73","author":"Zhao","year":"2020","journal-title":"J. Clin. Pathol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"E416","DOI":"10.1002\/ajh.26323","article-title":"The International Hemoglobinopathy Research Network (INHERENT): An International Initiative to Study the Role of Genetic Modifiers in Hemoglobinopathies","volume":"96","author":"Kountouris","year":"2021","journal-title":"Am. J. Hematol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s004390050535","article-title":"Alpha-Thalassemia in The Netherlands: A Heterogeneous Spectrum of Both Deletions and Point Mutations","volume":"100","author":"Harteveld","year":"1997","journal-title":"Hum. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"D1063","DOI":"10.1093\/nar\/gkt911","article-title":"Updates of the HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations","volume":"42","author":"Giardine","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s12291-022-01098-w","article-title":"Spectrum of Rare and Novel Indel Mutations Responsible for \u03b2 Thalassemia in Eastern India","volume":"39","author":"Sinha","year":"2024","journal-title":"Indian J. Clin. Biochem."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e2017018","DOI":"10.4084\/mjhid.2017.018","article-title":"\u03b2-Thalassemia Distribution in the Old World: An Ancient Disease Seen from a Historical Standpoint","volume":"9","author":"Kattamis","year":"2017","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/0140-6736(90)92338-I","article-title":"Rapid Detection and Prenatal Diagnosis of Beta-Thalassaemia: Studies in Indian and Cypriot Populations in the UK","volume":"336","author":"Old","year":"1990","journal-title":"Lancet"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"3000605221078785","DOI":"10.1177\/03000605221078785","article-title":"Clinical Validation of a Single-Tube PCR and Reverse Dot Blot Assay for Detection of Common \u03b1-Thalassaemia and \u03b2-Thalassaemia in Chinese","volume":"50","author":"Liang","year":"2022","journal-title":"J. Int. Med. Res."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Yu, Y., Lu, C., Gao, Y., Li, C., Li, D., Wang, J., Wei, H., Lu, Z., and You, G. (2022). Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China. Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.894444"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/ijlh.12108","article-title":"State of the Art and New Developments in Molecular Diagnostics for Hemoglobinopathies in Multiethnic Societies","volume":"36","author":"Harteveld","year":"2014","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.bcmd.2009.12.011","article-title":"Thalassemia in Western Australia: 11 Novel Deletions Characterized by Multiplex Ligation-Dependent Probe Amplification","volume":"44","author":"Phylipsen","year":"2010","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1111\/bjh.18794","article-title":"BSH Committee Significant Haemoglobinopathies: A Guideline for Screening and Diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline","volume":"201","author":"Bain","year":"2023","journal-title":"Br. J. Haematol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"17","DOI":"10.5045\/br.2019.54.1.17","article-title":"Recent Progress in Laboratory Diagnosis of Thalassemia and Hemoglobinopathy: A Study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology","volume":"54","author":"Lee","year":"2019","journal-title":"Blood Res."},{"key":"ref_53","unstructured":"Ministry of Health Malaysia (2024). Ministry of Health Malaysia Clinical Practice Guidelines: Management of Thalassaemia."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ebiom.2017.08.015","article-title":"Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies","volume":"23","author":"Shang","year":"2017","journal-title":"eBioMedicine"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1136\/jclinpath-2020-206588","article-title":"Mutation Spectrum and Erythrocyte Indices Characterisation of \u03b1-Thalassaemia and \u03b2-Thalassaemia in Sichuan Women in China: A Thalassaemia Screening Survey of 42,155 Women","volume":"74","author":"Li","year":"2021","journal-title":"J. Clin. Pathol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"9907","DOI":"10.1038\/s41598-022-14038-8","article-title":"Analysis of Rare Thalassemia Genetic Variants Based on Third-Generation Sequencing","volume":"12","author":"Peng","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"7530","DOI":"10.4081\/hr.2018.7530","article-title":"The Shortcut Strategy for Beta Thalassemia Prevention","volume":"10","author":"Suwannakhon","year":"2018","journal-title":"Hematol. Rep."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1111\/voxs.12544","article-title":"An Insight into Indonesian Current Thalassaemia Care and Challenges","volume":"15","author":"Wahidiyat","year":"2020","journal-title":"ISBT Sci. Ser."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"e2021003","DOI":"10.4084\/mjhid.2021.003","article-title":"Challenges in Thalassemia Carrier Detection in a Low Resource Setting Area of Eastern Indonesia: The Use of Erythrocyte Indices","volume":"13","author":"Sahiratmadja","year":"2021","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Hernaningsih, Y., Syafitri, Y., Indrasari, Y.N., Rahmawan, P.A., Andarsini, M.R., Lesmana, I., Moses, E.J., Abdul Rahim, N.A., and Yusoff, N.M. (2022). Analysis of Common Beta-Thalassemia (\u03b2-Thalassemia) Mutations in East Java, Indonesia. Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.925599"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"110840","DOI":"10.1016\/j.clinbiochem.2024.110840","article-title":"Carrier Frequency and Molecular Basis of Hemoglobinopathies Among Blood Donors in Eastern Morocco: Implications for Blood Donation and Genetic Diagnosis","volume":"135","author":"Belmokhtar","year":"2025","journal-title":"Clin. Biochem."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.phoj.2017.10.002","article-title":"Burden of Thalassemia in India: The Road Map for Control","volume":"2","author":"Colah","year":"2017","journal-title":"Pediatr. Hematol. Oncol. J."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Minaidou, A., Tamana, S., Stephanou, C., Xenophontos, M., Harteveld, C.L., Bento, C., Kleanthous, M., and Kountouris, P. (2022). A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms232415920"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Chassanidis, C., Boutou, E., Voskaridou, E., and Balassopoulou, A. (2016). Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0157393"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-025-03701-8","article-title":"Application Value of Long-Read Sequencing in Full Characterization of Thalassemia-Associated Structural Variations: Identifying a Novel Large Segmental Duplication and Literature Review","volume":"20","author":"Zhong","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e2410992","DOI":"10.1002\/advs.202410992","article-title":"Haplotype-Resolved Genotyping and Association Analysis of 1,020 \u03b2-Thalassemia Patients by Targeted Long-Read Sequencing","volume":"12","author":"Ye","year":"2025","journal-title":"Adv. Sci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1016\/j.jmoldx.2021.08.013","article-title":"Improved Characterization of Complex \u03b2-Globin Gene Cluster Structural Variants Using Long-Read Sequencing","volume":"23","author":"Rangan","year":"2021","journal-title":"J. Mol. Diagn."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2241226","DOI":"10.1080\/16078454.2023.2241226","article-title":"Detecting Rare Thalassemia in Children with Anemia Using Third-Generation Sequencing","volume":"28","author":"Ren","year":"2023","journal-title":"Hematology"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1093\/clinchem\/hvac200","article-title":"Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia","volume":"69","author":"Liang","year":"2023","journal-title":"Clin. Chem."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"5714","DOI":"10.1038\/s41598-021-85128-2","article-title":"Noninvasive Prenatal Testing for \u03b2-Thalassemia by Targeted Nanopore Sequencing Combined with Relative Haplotype Dosage (RHDO): A Feasibility Study","volume":"11","author":"Jiang","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Achour, A., Koopmann, T.T., Baas, F., and Harteveld, C.L. (2021). The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies. Front. Physiol., 12.","DOI":"10.3389\/fphys.2021.686689"},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Rizzuto, V., Koopmann, T.T., Blanco-\u00c1lvarez, A., Taz\u00f3n-Vega, B., Idrizovic, A., D\u00edaz de Heredia, C., Del Orbe, R., Pampliega, M.V., Velasco, P., and Beneitez, D. (2021). Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Front. Physiol., 12.","DOI":"10.3389\/fphys.2021.628236"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1093\/clinchem\/hvad073","article-title":"Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants","volume":"69","author":"Huang","year":"2023","journal-title":"Clin. Chem."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"e70044","DOI":"10.1002\/jcla.70044","article-title":"Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants","volume":"39","author":"Wei","year":"2025","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"Liu, Q., Chen, Q., Zhang, Z., Peng, S., Liu, J., Pang, J., Jia, Z., Xi, H., Li, J., and Chen, L. (2022). Identification of Rare Thalassemia Variants Using Third-Generation Sequencing. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.1076035"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2187155","DOI":"10.1080\/16078454.2023.2187155","article-title":"Whole Exome Sequencing and Rare Variant Association Study to Identify Genetic Modifiers, KLF1 Mutations, and a Novel Double Mutation in Thai Patients with Hemoglobin E\/Beta-Thalassemia","volume":"28","author":"Hantaweepant","year":"2023","journal-title":"Hematology"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1089\/gtmb.2018.0058","article-title":"Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease","volume":"22","author":"Alsultan","year":"2018","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1111\/ijlh.13452","article-title":"Identification of Thalassemia Gene Cluster Deletion by Long-Read Whole-Genome Sequencing (LR-WGS)","volume":"43","author":"Jiang","year":"2021","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"100983","DOI":"10.1016\/j.blre.2022.100983","article-title":"Determinants of Severity in Sickle Cell Disease","volume":"56","author":"Rees","year":"2022","journal-title":"Blood Rev."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e633","DOI":"10.1016\/S2352-3026(23)00096-0","article-title":"Defining Global Strategies to Improve Outcomes in Sickle Cell Disease: A Lancet Haematology Commission","volume":"10","author":"Piel","year":"2023","journal-title":"Lancet Haematol."},{"key":"ref_81","first-page":"348","article-title":"A Systematic Review on Thalassaemia Screening and Birth Reduction Initiatives: Cost to Success","volume":"79","author":"Safurah","year":"2024","journal-title":"Med. J. Malays."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1146\/annurev-genom-091416-035451","article-title":"Population Screening for Hemoglobinopathies","volume":"19","author":"Goonasekera","year":"2018","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1080\/03630269.2021.1908346","article-title":"The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades","volume":"45","author":"Colah","year":"2021","journal-title":"Hemoglobin"},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Halim-Fikri, B.H., Lederer, C.W., Baig, A.A., Mat-Ghani, S.N.A., Syed-Hassan, S.-N.R.-K., Yusof, W., Abdul Rashid, D., Azman, N.F., Fucharoen, S., and Panigoro, R. (2022). Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries. J. Pers. Med., 12.","DOI":"10.3390\/jpm12040552"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1002\/pd.4684","article-title":"Effectiveness of \u03b2-Thalassemia Prenatal Diagnosis in Southern Iran: A Cohort Study","volume":"35","author":"Moghadam","year":"2015","journal-title":"Prenat. Diagn."},{"key":"ref_86","first-page":"326","article-title":"Prevention Programmes and Prenatal Diagnosis for Beta Thalassemia in Pakistan: A Narrative Review","volume":"71","author":"Ghafoor","year":"2021","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"390","DOI":"10.3109\/03630269.2014.978455","article-title":"Prenatal Molecular Diagnosis of \u03b2-Thalassemia and Sickle Cell Anemia in the Syrian Population","volume":"38","author":"Murad","year":"2014","journal-title":"Hemoglobin"},{"key":"ref_88","first-page":"177","article-title":"Expanded Carrier Screening Using Next-Generation Sequencing of 123 Hong Kong Chinese Families: A Pilot Study","volume":"27","author":"Chan","year":"2021","journal-title":"Hong Kong Med. J. Xianggang Yi Xue Za Zhi"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e40144","DOI":"10.1016\/j.heliyon.2024.e40144","article-title":"Genotype-Phenotype Correlation Analysis of Patients with Thalassemia in Quanzhou City, Southeast of China","volume":"10","author":"Huang","year":"2024","journal-title":"Heliyon"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"797","DOI":"10.5858\/arpa.2022-0168-OA","article-title":"Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia","volume":"148","author":"Huang","year":"2024","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"e23990","DOI":"10.1002\/jcla.23990","article-title":"Evaluation of Intervention Strategy of Thalassemia for Couples of Childbearing Ages in Centre of Southern China","volume":"35","author":"Jiang","year":"2021","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/pd.4484","article-title":"A Single Centre Study on Birth of Children with Transfusion-Dependent Thalassaemia in Malaysia and Reasons for Ineffective Prevention","volume":"35","author":"Ngim","year":"2015","journal-title":"Prenat. Diagn."},{"key":"ref_93","first-page":"e22209","article-title":"Screening for Beta Thalassemia Carrier State Among Women Attending Antenatal Clinic in a Tertiary Care Centre and Framing a Model Program for the Prevention of Beta Thalassemia","volume":"14","author":"Suman","year":"2022","journal-title":"Cureus"},{"key":"ref_94","first-page":"1047","article-title":"Premarital Genetic Screening for Beta Thalassemia Carrier Status of Indexed Families Using HbA2 Electrophoresis","volume":"65","author":"Nosheen","year":"2015","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_95","first-page":"baae080","article-title":"Global Globin Network and Adopting Genomic Variant Database Requirements for Thalassemia","volume":"2024","author":"Zulkipli","year":"2024","journal-title":"Database J. Biol. Databases Curation"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1002\/humu.24280","article-title":"Adapting the ACMG\/AMP Variant Classification Framework: A Perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel","volume":"43","author":"Kountouris","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ejogrb.2020.08.001","article-title":"Non-Invasive Prenatal Diagnosis and Screening for Monogenic Disorders","volume":"253","author":"Scotchman","year":"2020","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s13023-020-1294-z","article-title":"Nationwide Carrier Detection and Molecular Characterization of \u03b2-Thalassemia and Hemoglobin E Variants in Bangladeshi Population","volume":"15","author":"Noor","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1080\/03630269.2021.2008959","article-title":"Thalassemia in Asia 2021 Thalassemia in Brunei Darussalam","volume":"46","author":"Chong","year":"2022","journal-title":"Hemoglobin"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"e13557","DOI":"10.1097\/MD.0000000000013557","article-title":"Invasive Molecular Prenatal Diagnosis of Alpha and Beta Thalassemia Among Hakka Pregnant Women","volume":"97","author":"Wu","year":"2018","journal-title":"Medicine"},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Luo, H., Huang, T., Lu, Q., Zhang, L., Xu, Y., Yang, Y., Guo, Z., Yuan, H., Shen, Y., and Huang, S. (2022). Molecular Prevalence of HBB-Associated Hemoglobinopathy among Reproductive-Age Adults and the Prenatal Diagnosis in Jiangxi Province, Southern Central China. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.992073"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"117622","DOI":"10.1016\/j.cca.2023.117622","article-title":"Molecular Spectrum and Prevalence of Thalassemia Investigated by Third-Generation Sequencing in the Dongguan Region of Guangdong Province, Southern China","volume":"551","author":"Lou","year":"2023","journal-title":"Clin. Chim. Acta Int. J. Clin. Chem."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s40246-023-00520-5","article-title":"Next-Generation Sequencing Analysis of the Molecular Spectrum of Thalassemia in Southern Jiangxi, China","volume":"17","author":"Yang","year":"2023","journal-title":"Hum. Genom."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"e22845","DOI":"10.1002\/jcla.22845","article-title":"Next-Generation Sequencing Improves Molecular Epidemiological Characterization of Thalassemia in Chenzhou Region, P.R. China","volume":"33","author":"Zhang","year":"2019","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"7329","DOI":"10.2147\/IJGM.S338419","article-title":"Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China","volume":"14","author":"Zheng","year":"2021","journal-title":"Int. J. Gen. Med."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"203","DOI":"10.2174\/1573396318666220624142349","article-title":"Beta Thalassemia Carrier Rate: Problem Burden among High School Children","volume":"19","author":"Sherief","year":"2023","journal-title":"Curr. Pediatr. Rev."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Hesham mervat (2018). Screening for B-Thalassemia Carrier Among Students in Asecondary School in Diarb Negm, Sharkia. Zagazig Univ. Med. J.","DOI":"10.21608\/zumj.2018.13007"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1080\/03630269.2016.1259169","article-title":"A Comprehensive Screening Program for \u03b2-Thalassemia and Other Hemoglobinopathies in the Hooghly District of West Bengal, India, Dealing with 21\u2009137 Cases","volume":"40","author":"Bhattacharyya","year":"2016","journal-title":"Hemoglobin"},{"key":"ref_109","first-page":"11","article-title":"Incidence of \u03b2-Thalassemia Carriers in Muzaffarabad, Azad Kashmir","volume":"10","author":"Ahmed","year":"2016","journal-title":"Ann. Punjab Med. Coll."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"384","DOI":"10.3109\/03630269.2015.1068799","article-title":"Population Screening and Prevention Strategies for Thalassemias and Other Hemoglobinopathies of Eastern India: Experience of 18,166 Cases","volume":"39","author":"Chatterjee","year":"2015","journal-title":"Hemoglobin"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s12308-020-00407-7","article-title":"Prevalence of \u03b2-Haemoglobinopathies in Eastern India and Development of a Novel Formula for Carrier Detection","volume":"13","author":"Saha","year":"2020","journal-title":"J. Hematop."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"5414","DOI":"10.1038\/s41598-022-09250-5","article-title":"Significance of Borderline HbA2 Levels in \u03b2 Thalassemia Carrier Screening","volume":"12","author":"Colaco","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"e2018042","DOI":"10.4084\/mjhid.2018.042","article-title":"Prevalence of \u03b2-Thalassemia Mutations among Northeastern Iranian Population and Their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study","volume":"10","author":"Jaripour","year":"2018","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1080\/00325481.2023.2285726","article-title":"Premarital Hemoglobinopathy Screening Program Results of a Province in the Black Sea Region of Turkey: Three Years\u2019 Experience","volume":"135","author":"Oruc","year":"2023","journal-title":"Postgrad. Med."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1080\/03630269.2024.2418507","article-title":"Prevalence and Molecular Characterization of \u03b2-Thalassemia in Kirkuk Province of Northern Iraq","volume":"48","author":"Abbas","year":"2024","journal-title":"Hemoglobin"},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Singha, K., Chaibunruang, A., Souvanlasy, B., Srivorakun, H., Yamsri, S., Fucharoen, G., and Fucharoen, S. (2021). \u03b2-Hemoglobinopathies in the Lao People\u2019s Democratic Republic: Molecular Diagnostics and Implication for a Prevention and Control Program. Int. J. Lab. Hematol., 43.","DOI":"10.1111\/ijlh.13406"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1080\/03630269.2022.2069034","article-title":"Current Status of Thalassemia in Lao People\u2019s Democratic Republic","volume":"46","author":"Phengsavanh","year":"2022","journal-title":"Hemoglobin"},{"key":"ref_118","first-page":"1","article-title":"Thalassemia Distribution Based on Screening Programs in the Population of the East Malaysian State of Sabah","volume":"9","author":"Pauzy","year":"2018","journal-title":"J. Blood Disord. Transfus."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"144544","DOI":"10.1016\/j.gene.2020.144544","article-title":"Genetic Epidemiology of Beta-Thalassemia in the Maldives: 23 Years of a Beta-Thalassemia Screening Program","volume":"741","author":"Mustafa","year":"2020","journal-title":"Gene"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"2080352","DOI":"10.1155\/2019\/2080352","article-title":"Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum","volume":"2019","author":"Laghmich","year":"2019","journal-title":"BioMed Res. Int."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1080\/03630269.2020.1729175","article-title":"Prevalence of Hemoglobinopathies (\u03b2-Thalassemia and Sickle Cell Trait) in the Adult Population of Al Majma\u2019ah, Saudi Arabia","volume":"44","author":"Mir","year":"2020","journal-title":"Hemoglobin"},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Apidechkul, T., Yeemard, F., Chomchoei, C., Upala, P., and Tamornpark, R. (2021). Epidemiology of Thalassemia among the Hill Tribe Population in Thailand. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0246736"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1080\/03630269.2023.2206971","article-title":"Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey","volume":"47","author":"Seydel","year":"2023","journal-title":"Hemoglobin"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"305","DOI":"10.3109\/03630269.2014.938163","article-title":"Thalassemias and Hemoglobinopathies in Turkey","volume":"38","author":"Canatan","year":"2014","journal-title":"Hemoglobin"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1080\/03630269.2024.2427189","article-title":"Update on Prevention of Hemoglobinopathies in Azerbaijan","volume":"48","author":"Mammadova","year":"2024","journal-title":"Hemoglobin"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1111\/ijcp.12628","article-title":"Incidence of Haemoglobinopathies in Sicily: The Impact of Screening and Prenatal Diagnosis","volume":"69","author":"Giambona","year":"2015","journal-title":"Int. J. Clin. Pract."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1080\/03630269.2022.2057326","article-title":"Thalassemia in Malaysia","volume":"46","author":"Alwi","year":"2022","journal-title":"Hemoglobin"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1080\/03630269.2023.2269837","article-title":"Current Status of Beta-Thalassemic Burden in India","volume":"47","author":"Singh","year":"2023","journal-title":"Hemoglobin"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jclinpath-2019-206317","article-title":"Sickle Cell Disease and Thalassaemia Antenatal Screening Programme in England over 10 Years: A Review from 2007\/2008 to 2016\/2017","volume":"73","author":"Weil","year":"2020","journal-title":"J. Clin. Pathol."},{"key":"ref_130","first-page":"330","article-title":"Molecular Scanning of \u03b2-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program","volume":"39","author":"Rujito","year":"2015","journal-title":"Hemoglobin"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000430837","article-title":"Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for \u03b2-Thalassaemia in the Middle East: A Scoping Review","volume":"18","author":"Saffi","year":"2015","journal-title":"Public Health Genom."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"101074","DOI":"10.1016\/j.blre.2023.101074","article-title":"Thalassaemia in China","volume":"60","author":"Wang","year":"2023","journal-title":"Blood Rev."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/pd.5611","article-title":"International Perspectives on the Implementation of Reproductive Carrier Screening","volume":"40","author":"Delatycki","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_134","doi-asserted-by":"crossref","unstructured":"Lobitz, S., Kunz, J.B., Cario, H., Hakimeh, D., Jarisch, A., Kulozik, A.E., Oevermann, L., and Grosse, R. (2021). Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review. Int. J. Neonatal Screen., 7.","DOI":"10.3390\/ijns7010007"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1258\/096914106777589650","article-title":"Neonatal Haemoglobinopathy Screening: Review of a 10-Year Programme in Brussels","volume":"13","author":"Gulbis","year":"2006","journal-title":"J. Med. Screen."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"e620","DOI":"10.1016\/S2214-109X(25)00071-3","article-title":"Indonesia\u2019s First Nationwide Health Screening Programme","volume":"13","author":"Nur","year":"2025","journal-title":"Lancet Glob. Health"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1186\/s13023-024-03344-1","article-title":"Urgent Call for Compulsory Premarital Screening: A Crucial Step towards Thalassemia Prevention in Bangladesh","volume":"19","author":"Hossain","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Al-Shafai, M., Al-Romaihi, A., Al-Hajri, N., Islam, N., and Adawi, K. (2022). Knowledge and Perception of and Attitude toward a Premarital Screening Program in Qatar: A Cross-Sectional Study. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19074418"},{"key":"ref_139","unstructured":"(2025, August 01). Senate of Canada, P. of C. Bill S-201: An Act Respecting a National Framework on Sickle Cell Disease. Available online: https:\/\/sencanada.ca\/en\/senators\/ince-tony\/interventions\/677149\/36."},{"key":"ref_140","unstructured":"(2025, August 03). National Health Mission (NHM), India About Sickle Cell Mission. Ministry of Health and Family Welfare, Government of India. About Sickle Cell Mission. National Health Mission, Available online: https:\/\/nhm.gov.in\/."},{"key":"ref_141","unstructured":"(2025, August 03). WHO-EMRO (World Health Organization\u2013Eastern Mediterranean Regional Office) Regional Meeting on Haemoglobinopathies and Genetic Disorders. Available online: https:\/\/applications.emro.who.int\/docs\/WHO_EM_NCD_068_E_en.pdf."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/9\/3916\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:20:45Z","timestamp":1777522845000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/9\/3916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,28]]},"references-count":141,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,5]]}},"alternative-id":["ijms27093916"],"URL":"https:\/\/doi.org\/10.3390\/ijms27093916","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,28]]}}}