A Database of Human Hemoglobin Variants and Thalassemias

This is a relational database of information about hemoglobin variants and mutations that cause thalassemia. The initial data came from Syllabi authored by Prof. Titus H.J. Huisman, Mrs. Marianne F.H. Carver, Dr. Erol Baysal, and Prof. Georgi D. Efremov. This information was converted to a database, and now new entries are added and old entries are corrected by our curators, Dr. Henri Wajcman, Dr. George Patrinos, Dr. Kamran Moradkhani, Joseph Borg, and Philippe Joly. HbVar results from a collaboration among several investigators at Penn State University (USA), INSERM Creteil (France), and Boston University Medical Center (USA). Visit our query page or summary page to see the types of information available.

To query on the database, click here.

To access summaries of the categories of the mutations, click here.
Summaries of mutation categories has counts of the results for common queries and buttons to link to them.

Most recent update
Difference in mass chart
XPRbase has experimental protocols
FINDbase-related links
    Search FINDbase for beta allele frequencies
    Search FINDbase for alpha allele frequencies
    Search FINDbase for delta allele frequencies
    Note: You may have to install Silverlight software to view the FINDbase pages.
Help Page
    Help with numbers
    Help with HGVS nomenclature
Frequently Asked Questions (including how to add a new variant to HbVar)
How to contact us

Number of users from January 27, 2000 to October 5, 2014
Query page 87,626
Summary page 49,389
Html syllabus 226,847
Number of users from April 5, 2012 to October 5, 2014
LOVD - Globin Gene Server 20,741
Publications:
Databases of Human Hemoglobin Variants and Other Resources at the Globin Gene Server. abstract
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server: abstract and pdf
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. pdf
HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations: 2007 Update. pdf
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. article cover commentary supplementary table (.xls) and text (pdf)

Related sites:
SeqView, a Sequence Visualisation Program
PhenCode - connects data from LSDBs (including HbVar) to genome browsers.
LOVD version of the Globin Gene Server (this includes some genes not in HbVar)

Reference Sequences:
NG_000007.3
NG_000006.1

Most of this material is derived from the books
A Syllabus of Human Hemoglobin Variants (Second Edition, 1998) [html] by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov,
A Syllabus of Thalassemia Mutations (1997) [html] by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal,
both published by The Sickle Cell Anemia Foundation in Augusta, GA, USA.   Obtaining a printed copy


Citing this resource*
*Patrinos, G.P., B. Giardine, C. Riemer, W. Miller, D.H.K. Chui, N.P. Anagnou, H. Wajcman, and R.C. Hardison (2004)
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucl. Acids Res . 32 Database issue: D537-541.

http://globin.cse.psu.edu/hbvar/menu.html