| Hb I-High Wycombe | beta59(E3)Lys->Glu |
|---|
| CONTACT | External | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X is fast moving | ||
| CHROMATOGRAPHY | Hb X was isolated by DEAE-cellulose chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation AAG->GAG at codon 59 | ||
| FUNCTION STUDIES | Not reported | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in an English family and in a Australian family of German and Scottish descent | ||
| OTHER INFORMATION | Quantity in the heterozygote ~45% |
| REFERENCES | |||
| 1. | Boulton, F.E., Huntsman, R.G., Lehmann, H., Lorkin, P., and Romero Herrera, A.E.: Br. J. Haematol., 20:671, 1971. | ||
| 2. | Wilkinson, T., Como, P., Brock, P., Kronenburg, H., Trent, R.J.A., and Brennan, S.O.: Hemoglobin, 11:51, 1987. | ||