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.
Highlights
Hemoglobinopathies are the most common single-gene genetic disorders in humans, resulting from pathogenic genomic variants in the human ␣-like and -like globin gene clusters [1]
The human ␣-globin gene cluster is comprised of the HBZ (OMIM# 142310), HBA2 (OMIM# 141850), HBA1 (OMIM# 141800), HBM (OMIM# 609639) and HBQ1 (OMIM# 142240) genes, which encode the , ␣2, ␣1- and possibly - and -globin polypeptide chains, respectively
The human -globin gene cluster is comprised of the HBE1 (OMIM# 142100), HBG2 (OMIM# 142250), HBG1 (OMIM# 142200), HBD (OMIM# 142000) and HBB (OMIM# 141900) genes, which encode the ε, G␥, A␥, ␦- and -globin polypeptide chains, respectively
Summary
Hemoglobinopathies are the most common single-gene genetic disorders in humans, resulting from pathogenic genomic variants in the human ␣-like and -like globin gene clusters [1]. HbVar was developed in such a way to allow for regular data entry updates and corrections, as new hemoglobin variants and thalassemias continue to be discovered.
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