Evidence map›Paper›PMID 42861568›Full record

ArticleJournal of clinical laboratory analysis2026

Phenotypic and Genotypic Analysis of Two Rare Cases of --

Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Weijia YangDepartment of Eugenics and Genetics, Guilin People's Hospital, Guilin, Guangxi, China.ORCID https://orcid.org/0000-0002-5078-7353
Xiaoyan HuangBGI Genomics co., Ltd., Shenzhen, Guangdong, China.
Li ZhangDepartment of Hepatobiliary Surgery, Guilin People's Hospital, Guilin, Guangxi, China.
Xiaoqin YangBGI Genomics co., Ltd., Shenzhen, Guangdong, China.ORCID https://orcid.org/0009-0007-7237-6807
Yaya GuoBGI Genomics co., Ltd., Shenzhen, Guangdong, China.
Qingping KangDepartment of Eugenics and Genetics, Guilin People's Hospital, Guilin, Guangxi, China.
Min DouDepartment of Eugenics and Genetics, Guilin People's Hospital, Guilin, Guangxi, China.ORCID https://orcid.org/0000-0001-9302-8018
Guijun HuangDepartment of Radiology, Guilin People's Hospital, Guilin, Guangxi, China.

Funding

Open Project of NHC key GJWJWDP202303Self-fund Z-C20221640
6 · The paper itself

Abstract

backgroundTo report two cases of hemoglobin H (HbH) disease with routine genetic testing missed rare variants, where the phenotype was inconsistent with routine genetic testing results, explore their true genotypes and clinical characteristics, and evaluate the application value of single-molecule nanopore sequencing (CycloneSEQ platform) in detecting rare thalassemia variants.

methodsCommon thalassemia gene testing was performed on two adult male patients who presented with different complications. The results showed --

resultsThe two patients were ultimately diagnosed with rare deletional HbH disease with the genotype --

conclusionConventional thalassemia testing fails to identify rare deletional HbH disease, frequently causing genotype-phenotype discordance and diagnostic bias. The newly reported --

Indexed as

HbH diseasephenotyperare genotypeα‐Thalassemia

Identifiers

PMID42861568
PMCPMC13656067

What Socratic holds

Textmetadata
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Registered trials

None linked

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 Socratic graph.