Skip to main content

Missed Diagnosis of α-Globin Gene Cluster Duplication in Prenatal Screening: Identified Incidentally by Invasive Testing

This is a preview of subscription content, access via your institution.

Fig. 1

References

  1. Schrier SL (2002) Pathophysiology of thalassemia. Curr Opin Hematol 9:123–126

    Article  Google Scholar 

  2. Liu S, Jiang H, Wu MY et al (2015) Thalassemia intermedia caused by 16p13.3 sectional duplication in a β-thalassemia heterozygous child. Pediatr Hematol Oncol 32:349–353

    Article  Google Scholar 

  3. Jiang H, Liu S, Zhang YL et al (2015) Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome. Hemoglobin 39:102–106

    CAS  Article  Google Scholar 

  4. Harteveld CL, Refaldi C, Cassinerio E et al (2008) Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol Dis 40:312–316

    CAS  Article  Google Scholar 

  5. Faà V, Masala M, Cao A et al (2010) Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene. Blood Cells Mol Dis 44:156–1568

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dong-Zhi Li.

Ethics declarations

Conflict of interest

The authors declare no potential conflicts of interest.

Ethical Approval

This study involved human participants and was approved by Ethical Committee of Guangzhou Women and Children’s Medical Center. All the procedures complied with the Declaration of Helsinki.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Yang, Y., Zhen, L. & Li, DZ. Missed Diagnosis of α-Globin Gene Cluster Duplication in Prenatal Screening: Identified Incidentally by Invasive Testing. Indian J Hematol Blood Transfus 38, 606–608 (2022). https://doi.org/10.1007/s12288-022-01520-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12288-022-01520-6