Hb Uxbridge | beta20(B2)Val->Gly |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote (PCV 0.42 l/l) | ||
ELECTROPHORESIS | Hb X moves slower than Hb A on IEF; no separation by cellulose acetate electrophoresis | ||
CHROMATOGRAPHY | The betaX and betaA chains separation by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; location of the Val->Gly replacement determined by collision induced dissociation spectral analysis | ||
DNA ANALYSES | Not reported; presumed mutation GTG->GGG at codon 20 | ||
FUNCTION STUDIES | Mildly increased oxygen affinity; Bohr effect and heme-heme interaction are normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in an English newborn and her mother | ||
OTHER INFORMATION | Quantity in the adult heterozygote ~40% |
REFERENCES | |||
1. | Wajcman, H., Promé, D., Kister, J., Davies, S.C., Galactéros, F., and Henthorn, J.S.: Hemoglobin, 20:339, 1996. |