The -α<sup>3.7III</sup> subtype of α<sup>+</sup>-thalassemia was identified in China

Rationale: More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China.Patient concerns and Diagnoses: A 2-year-old Chinese girl was healthy with normal physical development and hematological parameters. Capillary electrophoresis suggested that Hb F increased slightly, while Hb A2 levels were normal. Flow cytometry, fluorescence hybridization, and Sanger sequencing were used to characterize the genotypes. Sanger sequencing detected a heterozygous mutation at codon 124 of the β-globin gene (HBB: c.374 C > A), which was previously reported as Hb Ty Gard in the HbVar database.Outcomes: We report the first case of HbTy Gard in a Chinese population. In areas with a high incidence of Hb diseases, sensitive detection of Hb components and accurate diagnosis of Hb variation are very important, and the combined application of capillary electrophoresis and gene sequencing can diagnose more Hb variants.

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“…The combined application of capillary electrophoresis and gene sequencing can be used to diagnose abnormal Hb isoforms. [ 9 ]…”

Section: Discussionmentioning

confidence: 99%

First report of a Chinese patient carrying Hb Ty Gard: A case report

2022

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Identification of double heterozygous -α ^4.2Ⅰ /-α ^4.2Ⅱ using third-generation sequencing

Liang,

Xiao,

Guo

et al. 2023

Hematology

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Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

et al. 2023

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Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology, has shown great potential for screening and diagnostic applications in various diseases, while its application in thalassemia detection is still in its infancy. This review aims to understand the latest and most widespread uses, advantages of TGS technologies, as well as the challenges and solutions associated with their incorporation into routine screening and diagnosis of thalassemia. Overall, TGS has exhibited higher rates of positive detection and diagnostic accuracy compared to conventional methods and next-generation sequencing technologies, indicating that TGS will be a feasible option for clinical laboratories conducting in-house thalassemia testing. The implementation of TGS technology in thalassemia diagnosis will facilitate the development of effective prevention and management strategies, thereby reducing the burden of this disease on individuals and society.

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The -α^3.7III subtype of α⁺-thalassemia was identified in China

Cited by 3 publications

References 11 publications

First report of a Chinese patient carrying Hb Ty Gard: A case report

First report of a Chinese patient carrying Hb Ty Gard: A case report

Identification of double heterozygous -α ^4.2Ⅰ /-α ^4.2Ⅱ using third-generation sequencing

Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

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The -α3.7III subtype of α+-thalassemia was identified in China

Cited by 3 publications

References 11 publications

First report of a Chinese patient carrying Hb Ty Gard: A case report

First report of a Chinese patient carrying Hb Ty Gard: A case report

Identification of double heterozygous -α 4.2Ⅰ /-α 4.2Ⅱ using third-generation sequencing

Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

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The -α^3.7III subtype of α⁺-thalassemia was identified in China

Identification of double heterozygous -α ^4.2Ⅰ /-α ^4.2Ⅱ using third-generation sequencing