We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at http://globin.cse.psu.edu. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic occurrence, structure studies, functional studies, and references. The initial information was derived from books by Dr. Titus Huisman and colleagues [Huisman et al., 1996, 1997, 1998]. The current database is updated regularly with the addition of new data and corrections to previous data. Queries can be formulated based on fields in the database. Tables of common categories of variants, such as all those involving the alphal-globin gene (HBA1) or all those that result in high oxygen affinity, are maintained by automated queries on the database. Users can formulate more precise queries, such as identifying "all beta-globin variants associated with instability and found in Scottish populations." This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci.

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doi.org/10.1002/humu.10044, hdl.handle.net/1765/72220
Human Mutation
Biophysical Genomics, Department Cell Biology & Genetics

Hardison, R., Chui, D. H. K., Giardine, B., Riemer, C., Patrinos, G., Anagnou, N., … Wajcman, H. (2002). HbVar. A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Human Mutation, 19(3), 225–233. doi:10.1002/humu.10044