A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China

It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.

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Publication Details

Journal
Practical Laboratory Medicine
Published
2024-10-23
DOI
https://doi.org/10.1016/j.plabm.2024.e00438
Citations
2
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
Field-Weighted Citation Impact
0.88

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article

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China

Dina Chen, Zeyan Zhong, Zhiyong Wu, Zhiyang Guan et al.
2 citations
Practical Laboratory Medicine
Hemoglobinopathies and Related Disorders
0.88
article

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China

Dina Chen, Zeyan Zhong, Zhiyong Wu, Zhiyang Guan, Jianhong Chen, Jianmin Chen, Guoxing Zhong
article en
2 citations

Abstract

It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.

Practical Laboratory MedicineVol. 42
Huizhou Central People's Hospital (CN)
Guangdong Medical Research Foundation
Zero hunger
Openalex Percentile: Top 23%
Hemoglobinopathies and Related Disorders
0.88
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