| Hb Aurora | beta139(H17)Asn->Tyr |
|---|
| CONTACT | Central cavity | ||
| HEMATOLOGY | Mild erythrocytosis in the heterozygote (PCV 0.49 l/l) | ||
| ELECTROPHORESIS | No separation by standard techniques at alkaline pH; Hb X occupies the position of Hb F on acid agar electrophoresis and on IEF | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Not reported | ||
| DNA ANALYSES | An AAT->TAT mutation at codon 139 | ||
| FUNCTION STUDIES | Increased oxygen affinity of whole blood | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in a 73-year-old Dutch female living in Canada | ||
| OTHER INFORMATION | Quantity of the variant estimated at ~50%; alpha-thal is absent |
| REFERENCES | |||
| 1. | Lafferty, J., Ali, M., Matthew, K., Eng, B., Patterson, M., and Waye, J.S.: Hemoglobin, 19:335, 1995. | ||