ArticlePloS one2014
IthaGenes: an interactive database for haemoglobin variations and epidemiology.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 4 of them syntheses that pooled it.
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Who cites it
102 citing papers in PubMed, 4 syntheses or guidelines pooled it, 252 citations in OpenAlex.
- Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.International journal of molecular sciences · 2024Pooled it
- Calcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia.The Cochrane database of systematic reviews · 2023Pooled it
- The prevalence of hepatitis C virus infection in β-thalassemia patients in Pakistan: a systematic review and meta-analysis.BMC public health · 2020Pooled it
- Prevalence of transfusion-transmitted infections in multiple blood transfusion-dependent thalassemic patients in Asia: A systemic review.International journal of immunopathology and pharmacologyPooled it
- Elevated Hemoglobin AJournal of clinical laboratory analysis · 2026Article
- COUP-TFII regulates hemoglobin switching by activating the BCL11A-XL repressor LIN28B and directly binding δ and β globin promoters in fetalHaematologica · 2026Article
- ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.International journal of laboratory hematology · 2026Article
- Hb Thessaloniki, a Novel, Hyperunstable, Alpha Globin Variant Detected in Northern Greece.Hematology reports · 2026Article
- Case series: a rare dominant form of β-thalassemia successfully treated by luspatercept.Annals of hematology · 2026Article
- The Heterogeneous Global Burden of Hemoglobinopathies Among Women of Childbearing Age, 1990-2021, with Projection to 2030.International journal of women's health · 2026Article
- Common hemoglobin variants affecting the diagnosis of β-thalassemia: A large cohort data at a single center.PloS one · 2026Article
- Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.Frontiers in medicine · 2026Article
- CRISPR editing of HPFH3 genotype induces γ-globin expression and reverses sickle cell disease and β-thalassemia phenotypes.Stem cell research & therapy · 2025Article
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.Scientific reports · 2025Article
- Cellular and molecular targets in β-Thalassemia: advances in iron Regulation, Erythropoiesis, and Gene-Based therapies.Functional & integrative genomics · 2025Review
- Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics.HemaSphere · 2025Article
- Review
- A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.The Journal of molecular diagnostics : JMD · 2025Article
- Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.International journal of molecular sciences · 2025Article
42 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in addition to numerous clinically important trans-acting disease modifiers encoded elsewhere and a multitude of polymorphisms with relevance for advanced diagnostic approaches. Moreover, new disease-linked variations are discovered every year that are not included in traditional and often functionally limited locus-specific databases. This paper presents IthaGenes, a new interactive database of haemoglobin variations, which stores information about genes and variations affecting haemoglobin disorders. In addition, IthaGenes organises phenotype, relevant publications and external links, while embedding the NCBI Sequence Viewer for graphical representation of each variation. Finally, IthaGenes is integrated with the companion tool IthaMaps for the display of corresponding epidemiological data on distribution maps. IthaGenes is incorporated in the ITHANET community portal and is free and publicly available at http://www.ithanet.eu/db/ithagenes.
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Registered trials
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.