{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:32:32Z","timestamp":1792787552158,"version":"4.5.0"},"reference-count":44,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Novin Genetic Diagnostic Laboratory"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2024,1,30]]},"abstract":"<jats:p>Introduction. \u03b2-Thalassaemia is the most common genetic disorder and is considered as a major public health concern in Iran. Different countrywide studies have shown a heterogeneous mutational basis of \u03b2-thalassaemia with different frequencies in each area. This study is aimed at investigating the common and rare mutations in Mazandaran and Golestan, northern provinces of Iran. Methods. 5425 microcytic and hypochromic individuals were investigated from Mazandaran and Golestan provinces. From these, 1323 beta carrier or affected individuals were selected where 938 persons were from Mazandaran and 385 people were from Golestan province, respectively. Result. 53 different mutations were identified, IVSII-1 (G&gt;A) was the most common (59.14%) followed by Cd 22\/23\/24 (-7\u2009bp) (5.34%), Cd 8 (-AA) (4.93%), Cd30 (G&gt;A) (4.00%), and IVSI-5 (G&gt;C) (3.70%) with a total of 77.11% in Mazandaran Province, respectively. In Golestan Province, IVSI-5 (G&gt;C) was the most frequent (44.62%) followed by IVSII-1 (G&gt;A) (27.18%), Cd 15 (TGG&gt;TAG) (4.36%), Fr 8\/9(+G) (3.85%), and Cd 8(-AA) (2.05%) with a total of 82.06%, respectively. From the 53 different mutations, 22 numbers have been observed in both provinces. Two deletions of the beta gene named Sicilian and Asian-Indian have been detected in Mazandaran with a frequency of 0.72% each. Conclusion. The 53 different mutations identified in this study were the most ever reported mutations in the country. Due to diversity of different ethnic groups, there are many varieties of mutation in beta globin gene in Iran. It could be assumed that both founder effect and natural selection caused by migration from neighboring areas have complemented each other to produce the high frequency of unique alleles within each region.<\/jats:p>","DOI":"10.1155\/2024\/8664803","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T11:36:46Z","timestamp":1706614606000},"page":"1-11","source":"Crossref","is-referenced-by-count":2,"title":["Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8240-4513","authenticated-orcid":true,"given":"Seyed Saeed","family":"Mousavi","sequence":"first","affiliation":[{"name":"Novin Genetic Diagnostic Laboratory, Farah Abad Boulevard, Sari, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9765-776X","authenticated-orcid":true,"given":"Hossein","family":"Karami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hematology & Oncology, Thalassemia Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3684-8754","authenticated-orcid":true,"given":"Ahmad","family":"Tamadoni","sequence":"additional","affiliation":[{"name":"Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5851-7323","authenticated-orcid":true,"given":"Hassan","family":"Mahmoudi","sequence":"additional","affiliation":[{"name":"The Clinical Research Development Unit of Amirkola Children\u2019s Hospital, Babol University of Medical Sciences, Babol, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0403-1109","authenticated-orcid":true,"given":"Ramin","family":"Shekarriz","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Gastrointestinal Cancer Research Center, Mazandaran University of Medical Sciences, Sari, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0224-7464","authenticated-orcid":true,"given":"Rita","family":"Siami","sequence":"additional","affiliation":[{"name":"Ghaemshahr Health Center, Mazandaran University of Medical Sciences, Sari, Mazandaran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5361-520X","authenticated-orcid":true,"given":"Mohammad Bagher","family":"Hashemi-Soteh","sequence":"additional","affiliation":[{"name":"Immunogenetic Research Center, Molecular and Cell Biology Research Center, Biochemistry and Genetic Department, Medical Faculty, Mazandaran University of Medical Sciences, Sari, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20402"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13512"},{"issue":"1","key":"3","first-page":"27","article-title":"Thalassemia in Iran: overview","volume":"1","author":"F. 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