Hb I-High Wycombe | beta59(E3)Lys->Glu |
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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. |