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An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia—-SEA deletion

Crossref DOI link: https://doi.org/10.1007/s00277-025-06223-2

Published Online: 2025-02-12

Published Print: 2025-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Jiang, Fan

Wu, Jieying

Yang, Manqiu

Chen, Xiaojun

Li, Ru

Yu, Qiuxia

Zuo, Liandong

Zhou, Jianying

Zhang, Yongling

Zhen, Li

Tang, Xuewei

Zhang, Ren

Chen, Shiping

Wang, Chenyu

Liao, Can

Li, Dongzhi
Funding

Funding for this research was provided by:

Guangdong Basic and Applied Basic Research Foundation (2022A 1515220140)

Guangzhou Science and Technology Plan Project (202206010100, 2023A03J0875, 202201020632, 202206010100, 2023A03J0875, 202201020632)

Guangdong Natural Science Foundation (2023A1515010402)
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Text and Data Mining valid from 2025-02-12

Version of Record valid from 2025-02-12
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Article History

Received: 5 November 2024

Accepted: 20 January 2025

First Online: 12 February 2025

Declarations

:

: This study was performed in accordance with the relevant ethics committee regulation of Guangzhou Women and Children’s Medical Center (2022-450B00). The informed consent was obtained from all subjects in this study.

: The patient and her family signed informed consent.

: The authors declare no competing interests.

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