ArticleNucleic acids research2021
Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed.
- Insights into the Complexities of Pharmacotherapy Parameters in Artificial Intelligence Models for Drug Selection, Precision Personalised Medicine and Optimal Therapeutic Outcomes.Pharmaceutics · 2026Review
- New Gene Therapy Strategy for β-Thalassemia.Stem cell reviews and reports · 2026Review
- Accurate identification of sickle cell disease cases in a large genotyped cohort using electronic health record data.Blood advances · 2026Article
- Case series: a rare dominant form of β-thalassemia successfully treated by luspatercept.Annals of hematology · 2026Article
- Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.BMC medicine · 2025Article
- New thalassemia mutations from West Bengal.The Indian journal of medical research · 2025Article
- Mechanisms of Globin Gene Regulation in Mammals.Annual review of genetics · 2025Review
- Detection of Hemoglobin Twin Peaks (HBA2:c.341T > A) in a Family During Antenatal Work-Up: A Case Report Documenting a Rare Entity and its Diagnostic Dilemma.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Alpha-Thalassemia Caused by ααIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.Annals of hematology · 2025Article
- Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants.Journal of clinical laboratory analysis · 2025Article
- Systematic identification and validation of ceRNA-driven regulatory mechanisms in pediatric β-Thalassemia major.Annals of hematology · 2025Article
- A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.Molecular biology reports · 2025Article
- Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China.Genetics research · 2025Article
- First Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin AJCEM case reports · 2025Article
- The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China.Frontiers in genetics · 2025Article
- Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing.Frontiers in genetics · 2025Article
- Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.The Libyan journal of medicine · 2024Article
- Article
- Genetic modifications ofHeliyon · 2024Article
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Abstract
HbVar (http://globin.bx.psu.edu/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to provide timely information on the numerous genomic variants leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Here, we report several advances for the database. We made clinically relevant updates of HbVar, implemented as additional querying options in the HbVar query page, allowing the user to explore the clinical phenotype of compound heterozygous patients. We also made significant improvements to the HbVar front page, making comparative data querying, analysis and output more user-friendly. We continued to expand and enrich the regular data content, involving 1820 variants, 230 of which are new entries. We also increased the querying potential and expanded the usefulness of HbVar database in the clinical setting. These several additions, expansions and updates should improve the utility of HbVar both for the globin research community and in a clinical setting.
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