Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Biomedical Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9434 Online ISSN: 2049-9442
Journal Cover
January-2026 Volume 24 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
January-2026 Volume 24 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations

  • Authors:
    • Yanhong Liu
    • Wei Ye
    • Yan Zhang
    • Tailang Yin
    • Jingwei Wang
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Laboratory, Institute of Translational Medicine, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, P.R. China, School of Laboratory Medicine, Hubei University of Chinese Medicine, Wuhan, Hubei 430065, P.R. China, Reproductive Medicine Center, Department of Obstetrics and Gynecology, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, P.R. China
    Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 8
    |
    Published online on: November 7, 2025
       https://doi.org/10.3892/br.2025.2081
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Thalassemia is mainly prevalent in southern China, but consistent regional epidemiological data remain scarce in Hubei Province (central China). The present study characterized thalassemia genotypes and hematological parameters in 2,604 non‑selectively screened individuals of reproductive‑age (mean age, 31.39±5.72 years) and 407 pediatric subjects (mean age, 3.19±4.31 years) with clinical indications enrolled at Renmin Hospital of Wuhan University (Wuhan, Hubei), from January 2019 to September 2024. Peripheral blood and serum samples were analyzed for red blood cell count (RBC), hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), serum iron, total iron binding capacity, serum ferritin (SF), folate, transferrin saturation and vitamin B12 (VITB12) levels. Genetic testing was performed using gap‑polymerase chain reaction (gap‑PCR), reverse dot blot, Sanger sequencing and research‑grade gap‑PCR. The overall thalassemia carrier rates were 14.94% (reproductive‑age group), 37.35% (pediatric group), and 17.97% (combined). Common α‑thalassemia genotypes included--SEA/αα and ‑α3.7/αα, and dominant β‑thalassemia mutations were β654, β41‑42 and β17, aligning with neighboring provinces, differing from southern high‑prevalence regions. Most phenotypes exhibited reduced RBC, Hb, MCV, MCH (all P<0.01) and elevated SF, VITB12. The high pediatric carrier rate may stem from selection bias due to clinical enrollment criteria. Notably, Hb and MCH were effective screening markers. In conclusion, Hubei has a substantial thalassemia burden (especially in children), and enhanced prenatal screening/counseling is urgently needed.
View Figures

Figure 1

Genotypic composition of
α-/β-thalassemia across geographic regions. (A) Depiction of the
most prevalent genotypic distribution of α-thalassemia, including
deletion variants (--SEA/αα, -α3.7/αα, -α4.2/αα) and non-deletion
variants (αWSα/αα, αQSα/αα, αCSα/αα) in Hubei and other
high-prevalence regions (Hunan, Jiangxi, Chongqing, Guizhou,
Yunnan, Guangxi, Hainan). (B) Illustratrion of the dominant
genotypic composition of β-thalassemia, featuring mutations β654,
β41-42, β17, β-28, βE and β71-72M in the same regions, with βN
denoting wild-type alleles. Bar heights reflect the relative
frequency of each genotype, demonstrating that the genotypes in
Hubei align with neighboring provinces (Hunan, Jiangxi, Chongqing
and Guizhou), but differ from southern high-prevalence areas
(Yunnan, Guangxi and Hainan).

Figure 2

Distribution of RBC, Hb, MCV and MCH
values across thalassemia clinical phenotypes. (A-D) Scatter plots
illustrating individual data points with group medians for (A) RBC
(x1012/l), (B) Hb (g/l), (C) MCV (fl) and (D) MCH (pg)
across thalassemia phenotypes, including βTT, βTI, αTT, αTI and
αβ-thalassemia compared to wild-type controls, with symbols
indicating statistical significance vs. wild type (ns, not
significant; *P≤0.05, **P≤0.01 and
***P≤0.001) and hematological parameters differentiating
phenotypes from controls and correlating with clinical severity.
RBC, red blood cell count; Hb, hemoglobin; MCV, mean corpuscular
volume; MCH, mean corpuscular hemoglobin; βTT, β-thalassemia trait;
βTI, β-thalassemia intermediate; αTT, α-thalassemia trait; αTI,
α-thalassemia intermedia.
View References

1 

Baird DC, Batten SH and Sparks SK: Alpha-and beta-thalassemia: rapid evidence review. Am Fam Physician. 105:272–280. 2022.PubMed/NCBI

2 

Lee JS, Im Cho S, Park SS and Seong MW: Molecular basis and diagnosis of thalassemia. Blood Res. 56 (Suppl):S39–S43. 2021.PubMed/NCBI View Article : Google Scholar

3 

Writing group for practice guidelines for diagnosis and treatment of genetic diseases. Clinical practice guidelines for alpha thalassemia. Chin J Med Gene. 235–242. 2020.PubMed/NCBI View Article : Google Scholar

4 

Writing group for practice guidelines for diagnosis and treatment of genetic diseases. Clinical practice guidelines for β-thalassemia. Chin J Med Genet. 243–251. 2020.PubMed/NCBI View Article : Google Scholar

5 

Tingting Z and Xiangmin X: Advances in the Prevention, Diagnosis, and Treatment of Thalassemia Guangdong Med J: 1189-1193, 2023.

6 

Beijing angel mother Charity Foundation and China Institute of Public Welfare of Beijing normal university Foundation: BLUE BOOK OF THALASSEMIA IN CHINA: Investigation report on the prevention and treatment of thalassemia in China (2020), China Social Publishing House, Beijing, 2021.

7 

Zhizhuo H, Yun G, Wei C and Guanda H: Analysis of screening and genotypes of thalassemia in Liuzhou Area of Guangxi Province. J Clin Hematol (China). 414–418. 2022.

8 

Tao J, Bodan W, Dan H, Desheng Z, Aiqi C, Ruihong W, Yiming Y and Jie Z (eds.): Thalassemia Screening and Genetic Diagnosis Results Analysis in Wenshan Zhuang-Miao Autonomous Prefecture, Yunnan Province. J Kunming Univ Sci Technol (Natural Sci). 162–167. 2023.

9 

Qiuling J, Qi L, Wenye S, Yao Z, Hongjian C, Huimin H, Weiying L and Yanlin M: The Prevalence and genetic analysis of Thalassemia in 20450 cases in Hainan. J Practical Med. 1092–1095. 2020.

10 

Jincai W, Kaichun W, Kunlan Y and Shuxian D: Analysis of screening results of 92550 cases of thalassemia in Puning area. Hainan Med J. 105–108. 2024.

11 

Min Y, Caiyun L, Dongzhu L and Haoqing Z: Application of Next-generation sequencing in screening of thalassemia gene in 11212 pregnant women in suxian and beihu districts of Chenzhou city, Hunan province. J Exp Hematol. 188–192. 2021.PubMed/NCBI View Article : Google Scholar

12 

Yuan Y, Lidan Z, Ying Z, Shengyan L, Jin CYW, Yong Z, Xi XCZ and Yunlong L: Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing. J Army Med Univ. 1750–1756. 2020.

13 

Xiaoxi Z, Xue Y, Guangping L, Daili T, Mei L, Yaqing J, Bi W and Wenfeng Y: Analysis of gene detection results of thalassemia in reproductive age population of different ethnic groups in some areas of Guizhou province. Chin J Birth Health Heredity. 1235–1241. 2021.

14 

Yuanyuan H, Lihua Y, Jun H, Aiqiong J, Qiaohui L, Xuelian S and Youqiong L: Analysis of gene testing results for thalassemia in Childbearing-Age population of Laibin City, Guangxi. J Mod Lab Med. 96–102. 2024.

15 

Ying W, Yan X, Si L, Li Z and Rong P: Analysis of the detection of thalassemia gene in Hunan Province Practical Preventive Med: 1363-1365, 2021.

16 

Runhong X, Hui L, Yayun Q, Yufei J, Meiqi Y, Guoqiang S, Miaomiao C and Jieping S: Genetic variation and distribution characteristics of thalassemia in people of childbearing age in Hubei Province. Chin J Endemiol. 280–285. 2023.

17 

Yunjuan W, Yanliang Z, Qiuyue X, Ying Z, Zhaowu H and Yang S: Gene Screening and Result Analysis of 2376 Cases of Thalassemia. J Kunming Med Univ. 68–71. 2021.

18 

Bin L, Min X, Yan K and Meng T: Analysis of Gene Test Results of Thalassemia in Reproductive Age Population in Kunming. Bioprocess, 2023.

19 

Yan C, Jiejing C, Wen X, Junfang Z and Canchang L: Analysis of gene detection result of 1165 cases of thalassemia. Med Diagnosis: 21-26, 2022.

20 

Qiyin L, Shu K, Ding W, Qing L, Xiaofang S and Zhen C: A Study on Genotyping and Screening Misses of Thalassemia in the Population of Childbearing Age in Guangzhou. Prog Mod Biomed. 3247–3252. 2023.

21 

Yajun D, Yan L, Yi Y, Qi G and Zhijun Z: Analysis of prenatal screening results of 4 629 pregnant women with thalassemia in Shiyan area of Hubei Province. J Dalian Med Univ. 509–512. 2023.

22 

Miao Y, Yongjie D, Xiaoju P and Jinhua Y: Analysis of prenatal screening results of thalassemia in 1 872 pregnant women in Yiling area of Hubei province. Appl Preventive Med. 352–355. 2019.

23 

Haiyan K, Sheng L, Yanru Z, Lin L, Hong J and Anxing F: Analysis of gene types and clinical phenotype in neonatal disease screening of thalassemia of 30 554 neonates in Huangshi city. Chin J Child Health Care. 328–331. 2020.

24 

Jing Y, Lian Z, Xiaoyi L and Yinhan Z: Analysis of the Hematological Parameters of Pregnant Women with Thalassemia. J Mod Labo Med, 2013.

25 

Cai A, Liu X, Ma Q, He G, Jing C, He J, Zeng F and Zhu B: Prevalence, mutation distribution, and economic burden of thalassemia in China: A systematic review and regional analysis. Arch Public Health. 83(92)2025.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Liu Y, Ye W, Zhang Y, Yin T and Wang J: Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations. Biomed Rep 24: 8, 2026.
APA
Liu, Y., Ye, W., Zhang, Y., Yin, T., & Wang, J. (2026). Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations. Biomedical Reports, 24, 8. https://doi.org/10.3892/br.2025.2081
MLA
Liu, Y., Ye, W., Zhang, Y., Yin, T., Wang, J."Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations". Biomedical Reports 24.1 (2026): 8.
Chicago
Liu, Y., Ye, W., Zhang, Y., Yin, T., Wang, J."Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations". Biomedical Reports 24, no. 1 (2026): 8. https://doi.org/10.3892/br.2025.2081
Copy and paste a formatted citation
x
Spandidos Publications style
Liu Y, Ye W, Zhang Y, Yin T and Wang J: Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations. Biomed Rep 24: 8, 2026.
APA
Liu, Y., Ye, W., Zhang, Y., Yin, T., & Wang, J. (2026). Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations. Biomedical Reports, 24, 8. https://doi.org/10.3892/br.2025.2081
MLA
Liu, Y., Ye, W., Zhang, Y., Yin, T., Wang, J."Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations". Biomedical Reports 24.1 (2026): 8.
Chicago
Liu, Y., Ye, W., Zhang, Y., Yin, T., Wang, J."Genotypic and hematological profiling of thalassemia in reproductive‑age and pediatric populations". Biomedical Reports 24, no. 1 (2026): 8. https://doi.org/10.3892/br.2025.2081
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team