Trial reportHaematologica2011
Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease.
Trial report in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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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.
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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.
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Who cites it
30 citing papers in PubMed, 77 citations in OpenAlex.
- Rapid detection of genetic modifiers of β-thalassemia based on MALDI-TOF MS.Annals of hematology · 2025Article
- Article
- Review
- Combined approaches for increasing fetal hemoglobin (HbF) andFrontiers in genome editing · 2023Review
- The rs368698783 (G>A) Polymorphism Affecting LYAR Binding to the Aγ-Globin Gene Is Associated with High Fetal Hemoglobin (HbF) in β-Thalassemia Erythroid Precursor Cells Treated with HbF InducersInternational journal of molecular sciences · 2023Article
- Article
- Single Nucleotide Polymorphisms inDiagnostics (Basel, Switzerland) · 2022Review
- Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin).Therapeutic advances in hematology · 2022Article
- Treatment of Erythroid Precursor Cells from β-Thalassemia Patients withInternational journal of molecular sciences · 2021Article
- Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.Scientific reports · 2021Article
- Predictive SNPs for βScientific reports · 2021Observational
- Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells.Blood advances · 2021Article
- Changing patterns in the epidemiology of β-thalassemia.European journal of haematology · 2020Review
- Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2020Article
- Thalassemia: Common Clinical Queries in Management.Indian journal of pediatrics · 2020Review
- A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies.Frontiers in genome editing · 2020Review
- Molecular basis of β thalassemia and potential therapeutic targets.Blood cells, molecules & diseases · 2018Review
- An Aγ-globin G->A gene polymorphism associated with βBMC medical genetics · 2017Article
- In Vitro Hb Production in B-thalassemia Patients Is Not a Predictor of Clinical Responsiveness to Hydroxyurea.Iranian journal of public health · 2017Article
- Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels.Molecular diagnosis & therapy · 2016Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia Intermedia phenotype associated with the different combinations of alleles. The presence or absence of the favorable alleles could accurately predict the type of thalassemia in 83.2% of the cases. The percentage of correct predictions made from the β-thalassemia mutations and the XmnI SNP alone were significantly improved by the adjustment with the 3 other modifiers; from 73.6% to 83.2% (P<0.001). In this study, we showed that predictions based on genetic modifiers can foresee the Major or Intermedia type of β-thalassemia, even in cohorts of patients with various β-globin genotypes.
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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.