Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

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.

Thalassemia 2016: Modern medicine battles an ancient disease

“…The large quantity of information amassed on thalassemia mutations has been stored in a freely accessible online database known as HbVar (http://globin.bx.psu.edu/hbvar). Originally begun in 2001 [7], it was recently updated [8]. This database is one of the oldest locus-specific databases and is invaluable to clinicians and researchers alike.…”

The α-Thalassemias

“…More than 100 genetic forms of α-thalassemia have thus far been identified, 17 with phenotypes ranging from asymptomatic to lethal. Despite this complexity, the severity of this disorder is usually well correlated with the number of nonfunctional copies of the α-globin genes (Fig.…”

Detection of Co-inheritance of Hb Hope and Hb Constant Spring in Three Thai Samples by Capillary Electrophoresis

“…More than 220 mutation variants of b-thalassemia and more than 100 genetic forms of a-thalassemia are reported in the world with many community/region-specific mutations [1,2]. Barring a few conditions like methemoglobinemic or hyperunstable hemoglobin (Hb) variants that can be symptomatic even in the heterozygous state; the most heterozygotes for hemoglobinopathies are clinically and hematologically normal.…”

“…However, the homozygous form or co-inheritance together with other thalassemia and hemoglobinopathies can result in severe disease. Therefore, understanding of a prevalence of hemoglobinopathy and its genetic diversity is essential to define policies aimed at reducing the long-term health burden of hemoglobinopathy, allowing for precise diagnosis, and providing adequate genetic counseling [2]. Hb Hope [b136 (H14) Gly ?…”