| Hb Bunbury | beta94(FG1)Asp->Asn |
|---|
| CONTACT | External | ||
| HEMATOLOGY | Mild erythrocytosis in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X is located in the position of Hb F; at acidic pH it moves between Hb A and Hb S | ||
| CHROMATOGRAPHY | Hb X can be isolated by DE-52 cellulose chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion of the betaX chain; separation of the peptides by fingerprinting; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GAC->AAC at codon 94 | ||
| FUNCTION STUDIES | Increased oxygen affinity; decreased Bohr effect | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in an Italian family in Australia and in a Caucasian family in Philadelphia, PA, USA | ||
| OTHER INFORMATION | Quantity in the heterozygote 38-40% |
| REFERENCES | |||
| 1. | Como, P.F., Kennett, D., Wilkinson, T., and Kronenberg, H.: Hemoglobin, 7:413, 1983. | ||
| 2. | Ballas, S.K., Park, D., Fernandez, L., Hine, T.K., Jue, D.L., Johnson, M.H., and Moo-Penn, W.F.: Hemoglobin, 16:281, 1992. | ||