{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:01:47Z","timestamp":1773003707047,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004479","name":"Natural Science Foundation of Jiangxi Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Thalassemia is a common inherited hematological disease with genetic disorders characterized by imbalanced synthesis of the globin chains. Due to the improvement of treatment methods, patients with thalassemia can survive for a long time. Therefore, it is not uncommon for patients with thalassemia suffering from malignant tumors. However, there are quite few reports on thalassemia patients complicated with breast cancer. Herein, we try to investigate the prevalence and genetic disorders spectrum of thalassemia in patients with breast cancer.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Blood routing tests and serum ferritin analysis were conducted in 1887 breast cancer patients treated in the department of radiation oncology during 1 April 2020 and 30 March 2022. The suspected thalassemia carriers with small mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH) or mean corpuscular hemoglobin concentration (MCHC) but the concentration of serum ferritin within normal limits were further investigated by polymerase chain reaction (PCR) and flow through hybridization gene chip to detect common mutations of \u03b1-globin and \u03b2-globin genes using Thalassemia Geno Array Diagnostic Kit. The prevalence and genetic mutation spectrum of thalassemia among breast cancer patients were analyzed.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Four hundred and eighty-nine suspected thalassemia carriers were detected by complete blood cell counts and serum ferritin analysis among 1887 breast cancer patients. One hundred and seven cases (5.7%) were identified as carriers of thalassemia, of which 55 cases (51.4%) were \u03b1-thalassemia, 50 cases (46.7%) were \u03b2-thalassemia, and 2 cases (1.9%) were co-inheritance of \u03b1-thalassemia and \u03b2-thalassemia simultaneously. In \u03b1-thalassemia, the most prevalent genotype is -<jats:sup>SEA<\/jats:sup>\/\u03b1\u03b1; as for \u03b2-thalassemia, \u03b2<jats:sup>IVS\u2212II\u2212654<\/jats:sup>\/\u03b2 is the most common genotype. The degree of anemia is more severe in \u03b2-thalassemia than in \u03b1-thalassemia.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> This is the first comprehensive molecular epidemiological investigation on thalassemia among breast cancer patients. Our data indicated that thalassemia was not uncommon in breast cancer patients. The physicians should have the knowledge to avoid misdiagnosis as iron deficiency anemia.<\/jats:p>","DOI":"10.3389\/fgene.2022.1001369","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T06:44:32Z","timestamp":1666075472000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China"],"prefix":"10.3389","volume":"13","author":[{"given":"Jingxian","family":"Ding","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaohui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoliu","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingge","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghong","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"B1","first-page":"404","article-title":"Incidence of hepatocellular carcinoma in patients with thalassemia who had hepatitis C","volume":"51","author":"Ansari","year":"2013","journal-title":"Acta Med. Iran."},{"key":"B2","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/ijlh.12527","article-title":"Laboratory diagnosis of thalassemia","volume":"38","author":"Brancaleoni","year":"2016","journal-title":"Int. J. Lab. Hematol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1735","DOI":"10.1182\/blood-2005-09-3557","article-title":"Screening and counseling for thalassemia","volume":"107","author":"Chui","year":"2006","journal-title":"Blood"},{"key":"B4","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.ijrobp.2018.01.042","article-title":"Sensitization of hypoxic tumors to radiation therapy using ultrasound-sensitive oxygen microbubbles","volume":"101","author":"Eisenbrey","year":"2018","journal-title":"Int. J. Radiat. Oncol. Biol. Phys."},{"key":"B5","doi-asserted-by":"publisher","first-page":"68","DOI":"10.4183\/aeb.2020.68","article-title":"Frequency of thyroid nodules in patients with \u03b2-thalassemias in Southern Iran","volume":"16","author":"Haghpanah","year":"2020","journal-title":"Acta Endocrinol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1634\/theoncologist.9-90005-31","article-title":"Hypoxia and anemia: Factors in decreased sensitivity to radiation therapy and chemotherapy?","volume":"9","author":"Harrison","year":"2004","journal-title":"Oncologist"},{"key":"B7","doi-asserted-by":"publisher","first-page":"724196","DOI":"10.3389\/fped.2021.724196","article-title":"Molecular characterization of \u03b1- and \u03b2-thalassaemia among children from 1 to 10 Years of age in Guangxi, A multi-ethnic region in southern China","volume":"9","author":"He","year":"2021","journal-title":"Front. Pediatr."},{"key":"B8","doi-asserted-by":"publisher","first-page":"100585","DOI":"10.1016\/j.blre.2019.06.002","article-title":"Thalassemia and malignancy: An emerging concern?","volume":"37","author":"Hodroj","year":"2019","journal-title":"Blood Rev."},{"key":"B9","doi-asserted-by":"publisher","first-page":"e27522","DOI":"10.1097\/MD.0000000000027522","article-title":"Molecular genetics of \u03b2-thalassemia: A narrative review","volume":"100","author":"Jaing","year":"2021","journal-title":"Medicine"},{"key":"B10","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1038\/s41598-017-00967-2","article-title":"The prevalence of thalassemia in mainland China: Evidence from epidemiological surveys","volume":"7","author":"Lai","year":"2017","journal-title":"Sci. Rep."},{"key":"B11","doi-asserted-by":"publisher","first-page":"900","DOI":"10.20892\/j.issn.2095-3941.2020.0523","article-title":"Breast cancer incidence and mortality in women in China: Temporal trends and projections to 2030","volume":"18","author":"Lei","year":"2021","journal-title":"Cancer Biol. Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"e101505","DOI":"10.1371\/journal.pone.0101505","article-title":"Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China","volume":"9","author":"Lin","year":"2014","journal-title":"PLoS One"},{"key":"B13","first-page":"339","article-title":"Alpha and beta thalassemia","volume":"80","author":"Muncie","year":"2009","journal-title":"Am. Fam. Physician."},{"key":"B14","doi-asserted-by":"publisher","first-page":"e23596","DOI":"10.1002\/jcla.23596","article-title":"Molecular epidemiological and hematological profile of thalassemia in the dongguan region of Guangdong province, southern China","volume":"35","author":"Peng","year":"2021","journal-title":"J. Clin. Lab. Anal."},{"key":"B15","doi-asserted-by":"publisher","first-page":"345","DOI":"10.3109\/09513590.2014.998646","article-title":"The first case of breast cancer in thalassemic patient: Case report and review of literature","volume":"31","author":"Picardo","year":"2015","journal-title":"Gynecol. Endocrinol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"439","DOI":"10.3109\/03630269.2011.588355","article-title":"Malignancies in beta-thalassemia patients: First description of two cases of thyroid cancer and review of the literature","volume":"35","author":"Poggi","year":"2011","journal-title":"Hemoglobin"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1056\/NEJMra050436","article-title":"Beta-thalassemia","volume":"353","author":"Rund","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"B18","doi-asserted-by":"publisher","first-page":"e246062","DOI":"10.1590\/1519-6984.246062","article-title":"Thalassemia, a human blood disorder","volume":"83","author":"Shafique","year":"2021","journal-title":"Braz. J. Biol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"7447","DOI":"10.2147\/CMAR.S336044","article-title":"Anemia is a prognostic factor for overall survival rate in patients with non-small cell lung cancer treated with stereotactic body radiation therapy","volume":"13","author":"Tanaka","year":"2021","journal-title":"Cancer Manag. Res."},{"key":"B21","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.hoc.2017.11.006","article-title":"Clinical classification, screening and diagnosis for thalassemia","volume":"32","author":"Viprakasit","year":"2018","journal-title":"Hematol. Oncol. Clin. North Am."},{"key":"B22","doi-asserted-by":"publisher","first-page":"58","DOI":"10.3892\/or.2022.8269","article-title":"Hypoxia induces radioresistance, epithelialmesenchymal transition, cancer stem celllike phenotype and changes in genes possessing multiple biological functions in head and neck squamous cell carcinoma","volume":"47","author":"Wiechec","year":"2022","journal-title":"Oncol. Rep."},{"key":"B23","first-page":"1222","article-title":"Integration of immune and hypoxia gene signatures improves the prediction of radiosensitivity in breast cancer","volume":"12","author":"Yan","year":"2022","journal-title":"Am. J. Cancer Res."},{"key":"B24","doi-asserted-by":"publisher","first-page":"727233","DOI":"10.3389\/fgene.2021.727233","article-title":"Molecular characterization analysis of thalassemia and hemoglobinopathy in quanzhou, Southeast China: A large-scale retrospective study","volume":"12","author":"Zhuang","year":"2021","journal-title":"Front. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.1001369\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T06:44:38Z","timestamp":1666075478000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.1001369\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,18]]},"references-count":23,"alternative-id":["10.3389\/fgene.2022.1001369"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.1001369","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,18]]},"article-number":"1001369"}}