Evidence map›Paper›PMID 40990146›Full record

ArticleMolecular genetics & genomic medicine2025

Association Between KLF1, BCL11A and HBS1L-MYB Polymorphisms and Phenotypes With β-Thalassemia Patients in Hainan.

Junjie Hu, Huaye Chen, Wei Gong, Min Feng, Shidong Fu, Weihua Xu, Zhichao Ma, Shengmiao Fu, Xinping Chen

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In one paragraph

Article in Molecular genetics & genomic medicine, 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

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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.

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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

9 authors.

Junjie HuHainan Hospital Affiliated to Hainan Medical University, Hainan General Hospital, Haikou, P.R. China.ORCID https://orcid.org/0000-0002-3341-7588
Huaye ChenThe First Affiliated Hospital of Hainan Medical University, Haikou, P.R. China.
Wei GongDepartment of Clinical Laboratory, Affiliated Cancer Hospital of Hainan Medical University, Hainan Cancer Hospital, Haikou, P.R. China.
Min FengDepartment of Clinical Laboratory, Affiliated Cancer Hospital of Hainan Medical University, Hainan Cancer Hospital, Haikou, P.R. China.
Shidong FuDepartment of Clinical Laboratory, Affiliated Cancer Hospital of Hainan Medical University, Hainan Cancer Hospital, Haikou, P.R. China.
Weihua XuDepartment of Clinical Laboratory, Affiliated Cancer Hospital of Hainan Medical University, Hainan Cancer Hospital, Haikou, P.R. China.
Zhichao MaDepartment of Clinical Laboratory, Affiliated Cancer Hospital of Hainan Medical University, Hainan Cancer Hospital, Haikou, P.R. China.
Shengmiao FuHainan Lvtou Medical Laboratory Center, Haikou, P.R. China.ORCID https://orcid.org/0000-0001-5443-0418
Xinping ChenThe First Clinical School of Hainan Medical University, Haikou, P.R. China.ORCID https://orcid.org/0009-0003-1193-2890

Funding

Hainan Province Science and Technology Special Fund ZDYF2022SHFZ023Joint Program on Health Science & Technology Innovation of Hainan Province WSJK2024QN103
6 · The paper itself

Abstract

backgroundThe factors influencing the phenotypic heterogeneity of patients with β-thalassemia have been receiving much attention in the field of hematology research. Activating the sustained expression of fetal hemoglobin (HbF) has proven to be one of the effective ways to alleviate the clinical symptoms of β-thalassemia. Studies have reported that single nucleotide polymorphisms (SNP) in KLF1, BCL11A, and HBS1L-MYB can increase the expression level of HbF in patients with β-thalassemia and have an impact on the phenotype.

methodsIn this study, SNaPshot and Sanger sequencing were used to detect SNPs of BCL11A, HBS1L-MYB, and KLF1 in patients with different types of β-thalassemia collected in Hainan. Linkage disequilibrium and haplotype analysis were performed on mutant sites.

resultsAs a result, 41 mutation types of the above genes were detected (high mutation frequency and wide distribution range), and there was strong linkage disequilibrium at multiple mutation sites, resulting in multiple haplotypes. However, there are no significant differences in the distribution of gene polymorphisms between different types of β-thalassemia, suggesting that the modifications of KLF1, BCL11A, and HBS1L-MYB may have little impact on the β-thalassemia phenotype in this region.

conclusionOur study provides data support for assessing the impact of modified genes on the phenotype of patients with β-thalassemia in Hainan, and also promotes the clinical accurate diagnosis and classification evaluation of β-thalassemia.

Indexed as

beta-ThalassemiaCarrier ProteinsKruppel-Like Transcription FactorsNuclear ProteinsPeptide Elongation FactorsPolymorphism, Single NucleotideAdultChildFemaleFetal HemoglobinGTP-Binding ProteinsHaplotypesHumansLinkage DisequilibriumMaleMolecular ChaperonesBCL11A protein, humanCarrier Proteinserythroid Kruppel-like factorFetal HemoglobinGTP-Binding ProteinsHBS1L protein, humanKruppel-Like Transcription FactorsMolecular ChaperonesNuclear ProteinsPeptide Elongation FactorsRepressor ProteinsBCL11AHBS1L‐MYBKLF1β‐thalassemia

Identifiers

PMID40990146
PMCPMC12457980

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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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 Socratic graph.