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October 10, 2024

[Analysis of five Chinese individuals with rare thalassemia mutation HBB: c.93-21G＞A].

Guang-Kuan Zeng Yiyuan Ge Xiaomin Ma Xiaohua Yu Bairu Lai Yuwei Liao Lili Liu Yan-Bin Cao Yan-Qing Zeng Yuchan Huang Jianlian Liang Li‐Ye Yang

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Abstract

To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c.93-21G＞A.

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Cite This Study

Zeng et al. (2024) studied this question.

synapsesocial.com/papers/68e55b65e2b3180350ef91d7 https://doi.org/10.3760/cma.j.cn511374-20240108-00015

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A Novel Frameshift Mutation of <i>HBB</i> Causing Dominant β-Thalassemia in a Chinese Individual2024 · 1 citations
2Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( <i>HBB</i> :c.336dup)2024
3Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i> : C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>2025
4Genetic Analysis and Clinical Relevance of <b> <i>HBA1</i> </b> :c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia2025
5MOLECULAR PATHOLOGY OF Β-THALASSEMIA: CLINICOGENETIC EVALUATION OF HBB GENE MUTATIONS IN AFFECTED POPULATIONS: A CROSS-SECTIONAL STUDY2025