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, and Dr. George Patrinos. 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.

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Number of users from January 27, 2000 to June 5, 2013
Query page 71,633
Summary page 40,582
Html syllabus 208,998
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