Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter May 1, 2023

Misdiagnosis of Hb Bart’s disease: prenatal screening and diagnosis of thalassemia in special population

  • Guichun Gan , Yan Li , Jinping Bai , Meiping Jiang , Lihong Zheng and Youqiong Li ORCID logo EMAIL logo

Corresponding author: Youqiong Li, Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, P.R. China, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: Not applicable.

References

1. Mettananda, S, Higgs, DR. Molecular basis and genetic modifiers of thalassemia. Hematol Oncol Clin N Am 2018;32:177–91. https://doi.org/10.1016/j.hoc.2017.11.003.Search in Google Scholar PubMed

2. Lal, A, Vichinsky, E. The clinical phenotypes of alpha thalassemia. Hematol Oncol Clin North Am 2023;37:327–9. https://doi.org/10.1016/j.hoc.2022.12.004.Search in Google Scholar PubMed

3. Harteveld, CL, Higgs, DR. Alpha-thalassaemia. Orphanet J Rare Dis 2010;5:13. https://doi.org/10.1186/1750-1172-5-13.Search in Google Scholar PubMed PubMed Central

4. Li, Y, Liang, L, Tian, M, Qing, T, Wu, X. Electrophoresis features and genotypes of Hb Bart’s hydrops fetalis. Scand J Clin Lab Invest 2020;80:129–32. https://doi.org/10.1080/00365513.2019.1703211.Search in Google Scholar PubMed

5. Li, DZ, Li, Y, Li, J, Li, SC, Li, R. Prevention of Hb Bart’s (γ4) disease Associated with the -(Thai) α(0)-thalassemia deletion in mainland China. Hemoglobin 2015;39:412–4. https://doi.org/10.3109/03630269.2015.1067820.Search in Google Scholar PubMed

6. Kou, KO, Lee, H, Lau, B, Wong, WS, Kan, A, Tang, M, et al.. Two unusual cases of haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity. Fetal Diagn Ther 2014;35:306–8. https://doi.org/10.1159/000354808.Search in Google Scholar PubMed

7. Diego, D, Medline, A, Shandley, LM, Kawwass, JF, Hipp, HS. Donor sperm recipients: fertility treatments, trends, and pregnancy outcomes. J Assist Reprod Genet 2022;39:2303–10. https://doi.org/10.1007/s10815-022-02616-8.Search in Google Scholar PubMed PubMed Central

8. Söderström-Anttila, V, Wennerholm, UB, Loft, A, Pinborg, A, Aittomäki, K, Romundstad, LB, et al.. Surrogacy: outcomes for surrogate mothers, children and the resulting families-a systematic review. Hum Reprod Update 2016;22:260–76. https://doi.org/10.1093/humupd/dmv046.Search in Google Scholar PubMed

9. Thammavong, K, Luewan, S, Wanapirak, C, Tongsong, T. Ultrasound features of fetal anemia lessons from hemoglobin bart disease. J Ultrasound Med 2021;40:659–74. https://doi.org/10.1002/jum.15436.Search in Google Scholar PubMed

Received: 2023-04-08
Accepted: 2023-04-19
Published Online: 2023-05-01
Published in Print: 2023-09-26

© 2023 Walter de Gruyter GmbH, Berlin/Boston

Downloaded on 8.5.2024 from https://www.degruyter.com/document/doi/10.1515/cclm-2023-0358/html
Scroll to top button