Hb Grange-Blanche | beta27(B9)Ala->Val |
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CONTACT | Internal | ||
HEMATOLOGY | Mild erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | No separation at alkaline or acidic pH; separation by IEF is possible; Hb X migrates slightly more cathodic than Hb A | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of betaA+betaX chains; separation of peptides on reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GCC->GTC at codon 27 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a Portuguese mother and daughter | ||
OTHER INFORMATION | Quantity in the heterozygote ~50% (IEF data) |
REFERENCES | |||
1. | Baklouti, F., Giraud, Y., Francina, A., Richard, G., Périer, C., Geyssant, A., Jaubert, J., Brizard, C., and Delaunay, J.: FEBS Lett., 223:59, 1987. |