An Unexpected Finding of a Novel 21.9 kb Deletion (Heyuan deletion, β21.9kb) β-Thalassemia During HbA1c Measurements

This is the first report of the 21.9 kb deletion, so we named it Heyuan deletion for the place of origin of the proband. It presented with normal hematological parameters but an elevated HbF value.

Authors

Youqiong Li (ORCID: https://orcid.org/0000-0002-8640-7375)
Xingyuan Chen (ORCID: https://orcid.org/0000-0003-1928-5555)
Liang Liang (ORCID: https://orcid.org/0000-0002-5072-423X)
Han-Xian Liao
Ying Huang (ORCID: https://orcid.org/0000-0002-9870-7180)
Yu Zheng

Publication Details

Journal: Clinical Laboratory
Published: 2025-01-01
DOI: https://doi.org/10.7754/clin.lab.2024.241035
Primary Topic: Hemoglobinopathies and Related Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

An Unexpected Finding of a Novel 21.9 kb Deletion (Heyuan deletion, β21.9kb) β-Thalassemia During HbA1c Measurements

Youqiong Li, Xingyuan Chen, Liang Liang, Han-Xian Liao et al.

Jan 1, 2025

Clinical Laboratory

Hemoglobinopathies and Related Disorders

article

An Unexpected Finding of a Novel 21.9 kb Deletion (Heyuan deletion, β21.9kb) β-Thalassemia During HbA1c Measurements

Youqiong Li, Xingyuan Chen, Liang Liang, Han-Xian Liao, Ying Huang, Yu Zheng

January 1, 2025article en

Abstract

This is the first report of the 21.9 kb deletion, so we named it Heyuan deletion for the place of origin of the proband. It presented with normal hematological parameters but an elevated HbF value.

Clinical LaboratoryVol. 71(04/2025)

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Hemoglobinopathies and Related Disorders

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An Unexpected Finding of a Novel 21.9 kb Deletion (Heyuan deletion, β21.9kb) β-Thalassemia During HbA1c Measurements — Youqiong Li, Xingyuan Chen, et al. · Clinical Laboratory (2025) | TGRS Research Map | TGRS