Hb Aurora | beta139(H17)Asn->Tyr |
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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. |