ArticleNucleic acids research2014
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers.
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111 citing papers in PubMed.
- Evaluation of a point-of-care testing platform against a laboratory HbA1c measurement method in a South African tertiary-level diabetes clinic.Practical laboratory medicine · 2026Article
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- Thalassaemia.Nature reviews. Disease primers · 2026Review
- Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases.European journal of human genetics : EJHG · 2026Article
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- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- 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
- Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos.Acta medica Philippina · 2026Article
- Mutation Spectrum of Hemoglobinopathies in Tunisia.Human mutation · 2026Article
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- A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.The Journal of molecular diagnostics : JMD · 2025Article
- Molecular Characterization of Three Novel Large Deletions Causing αInternational journal of molecular sciences · 2025Article
- Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
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- Diagnosis of hemogobinopathies in the clinical laboratory: an occult Hofu hemoglobin on HPLC.Advances in laboratory medicine · 2025Article
- Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Are Mitochondria a Potential Target for Treating β-Thalassemia?Journal of clinical medicine · 2025Review
- A liquid chromatography-high-resolution mass spectrometry method for separation and identification of hemoglobin variant subunits with mass shifts less than 1 Da.Journal of mass spectrometry and advances in the clinical lab · 2025Article
- Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.American journal of blood research · 2025Article
- Molecular identification and phenotypic study of a novelFrontiers in medicine · 2025Article
51 more citing papers are in PubMed but not listed here.
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13 authors.
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Abstract
HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology and ethnic occurrence, accompanied by mutation frequencies and references. Here, we report updates to >600 HbVar entries, inclusion of population-specific data for 28 populations and 27 ethnic groups for α-, and β-thalassemias and additional querying options in the HbVar query page. HbVar content was also inter-connected with two other established genetic databases, namely FINDbase (http://www.findbase.org) and Leiden Open-Access Variation database (http://www.lovd.nl), which allows comparative data querying and analysis. HbVar data content has contributed to the realization of two collaborative projects to identify genomic variants that lie on different globin paralogs. Most importantly, HbVar data content has contributed to demonstrate the microattribution concept in practice. These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community.
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