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Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China

Overview of attention for article published in Hemoglobin, March 2023
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Title
Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China
Published in
Hemoglobin, March 2023
DOI 10.1080/03630269.2023.2182215
Pubmed ID
Authors

Lei Pan, Peirun Tian, Shiping Chen, Rui Zhang

Abstract

Here we report a novel β-globin gene mutation in the promoter (HBB:c.-139_-138delAC) detected by next-generation sequencing (NGS). The proband was a 28-year-old Chinese male, living in Shenzhen City, Guangdong Province, who originates from Hunan Province. The red cell indices were almost normal, with a slightly decreased Red Cell volume Distribution Width(RDW). Capillary electrophoresis (CE) showed the Hb A (93.1%) value was below normal, while the Hb A2 (4.2%) and Hb F (2.7%) values were both beyond normal. A set of genetic tests of the α and β-globin genes were then performed to determine whether the subject carried any causative mutations. The results of NGS revealed a two-base pair deletion at position -89 to -88(HBB:c.-139_-138delAC)in the heterozygous state, which was subsequently confirmed by Sanger sequencing.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 2 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 2 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 1 50%
Other 1 50%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 100%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 March 2023.
All research outputs
#20,678,281
of 25,401,381 outputs
Outputs from Hemoglobin
#278
of 464 outputs
Outputs of similar age
#316,669
of 423,636 outputs
Outputs of similar age from Hemoglobin
#4
of 5 outputs
Altmetric has tracked 25,401,381 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 464 research outputs from this source. They receive a mean Attention Score of 1.9. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
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