PMID- 36330446 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20221105 IS - 1664-8021 (Print) IS - 1664-8021 (Electronic) IS - 1664-8021 (Linking) VI - 13 DP - 2022 TI - The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China. PG - 1001369 LID - 10.3389/fgene.2022.1001369 [doi] LID - 1001369 AB - Background: 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. Methods: 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 alpha-globin and beta-globin genes using Thalassemia Geno Array Diagnostic Kit. The prevalence and genetic mutation spectrum of thalassemia among breast cancer patients were analyzed. Results: 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 alpha-thalassemia, 50 cases (46.7%) were beta-thalassemia, and 2 cases (1.9%) were co-inheritance of alpha-thalassemia and beta-thalassemia simultaneously. In alpha-thalassemia, the most prevalent genotype is -(SEA)/alphaalpha; as for beta-thalassemia, beta(IVS-II-654)/beta is the most common genotype. The degree of anemia is more severe in beta-thalassemia than in alpha-thalassemia. Conclusion: 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. CI - Copyright (c) 2022 Ding, Huang, Jiang, Li, Cao and Guo. FAU - Ding, Jingxian AU - Ding J AD - Department of Radiation Oncology, The Breast Cancer Institute, The Third Hospital of Nanchang, Nanchang, China. FAU - Huang, Zhaohui AU - Huang Z AD - Department of Radiation Oncology, The Breast Cancer Institute, The Third Hospital of Nanchang, Nanchang, China. FAU - Jiang, Xiaoliu AU - Jiang X AD - Department of Radiation Oncology, The Breast Cancer Institute, The Third Hospital of Nanchang, Nanchang, China. FAU - Li, Qingge AU - Li Q AD - Department of Radiation Oncology, The Breast Cancer Institute, The Third Hospital of Nanchang, Nanchang, China. FAU - Cao, Yali AU - Cao Y AD - Department of Breast Surgery, The Breast Cancer Institute, The Third Hospital of Nanchang, Nanchang, China. FAU - Guo, Yonghong AU - Guo Y AD - Department of Radiation Oncology, The Fourth Affiliated Hospital of Nanchang University, Nanchang, China. LA - eng PT - Journal Article DEP - 20221018 PL - Switzerland TA - Front Genet JT - Frontiers in genetics JID - 101560621 PMC - PMC9623098 OTO - NOTNLM OT - anemia OT - breast cancer OT - molecular mutation spectrum OT - serum ferritin OT - thalassemia COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2022/11/05 06:00 MHDA- 2022/11/05 06:01 PMCR- 2022/10/18 CRDT- 2022/11/04 02:36 PHST- 2022/07/23 00:00 [received] PHST- 2022/10/04 00:00 [accepted] PHST- 2022/11/04 02:36 [entrez] PHST- 2022/11/05 06:00 [pubmed] PHST- 2022/11/05 06:01 [medline] PHST- 2022/10/18 00:00 [pmc-release] AID - 1001369 [pii] AID - 10.3389/fgene.2022.1001369 [doi] PST - epublish SO - Front Genet. 2022 Oct 18;13:1001369. doi: 10.3389/fgene.2022.1001369. eCollection 2022.