Evidence map›Paper›PMID 41129011›Full record

ArticleMolecular biology reports2025

Identification of a novel 10.7 kb deletion (Nanning deletion; -ζ

Youqiong Li, Lihong Zheng, Liang Liang, Yu Zheng, Jinping Bai

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Youqiong LiCenter for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. liyouqiong327@163.com.
Lihong ZhengCenter for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Liang LiangCenter for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yu ZhengDepartment of Research and Development, Yaneng Biotechnology Corporation, Shenzhen, China.
Jinping BaiCenter for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Funding

Health Department Research Fund of Guangxi Z-A20240075Natural Science Foundation of Guangxi Zhuang Autonomous Region 2023GXNSFAA026102
6 · The paper itself

Abstract

backgroundZeta (ζ)-thalassemia is a rare form of thalassemia. In clinical practice, ζ-thalassemia is frequently a missed diagnosis due to its normal hematological phenotype. Here, we report a novel HBZ-HBZP1 deletion within the α-globin gene cluster.

methodsThe proband was first tested for six common deletional α-thalassemia using Gap-PCR and for three point mutations using PCR-based reverse dot blot (PCR-RDB). Multiplex ligation-dependent probe amplification (MLPA) was subsequently employed to detect copy number variations in the α-globin gene cluster. Third-generation sequencing (TGS) was performed to characterize potential deletion locations. Finally, based on the breakpoints suggested by TGS, Gap-PCR with specific primers followed by Sanger sequencing confirmed the precise breakpoints.

resultsThe proband's hematological parameters were normal, except for a decreased Hb A

conclusionThis study describes the identification of a novel 10.7 kb deletion (Nanning deletion, -ζ

Indexed as

Sequence DeletionThalassemiaAdultalpha-Globinsalpha-ThalassemiaChinaDNA Copy Number VariationsEast Asian PeopleFemaleHumansMultigene FamilyPoint Mutationalpha-Globins10.7 kb deletion (-ζ10.7 kb)Nanning deletionThird-generation sequencing (TGS)Ζ-thalassemia

Identifiers

PMID41129011

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.