Hb Pavie | alpha135(H18)Val->Glu |
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CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate by IEF and cellulose acetate at alkaline pH | ||
CHROMATOGRAPHY | Hb X can be separated from Hb A with different types of chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTG->GAG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Slightly reduced oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a diabetic patient of Italian origin | ||
OTHER INFORMATION | Quantity in the heterozygote ~25% |
REFERENCES | |||
1. | Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., and Galac-teros, F.: Clin. Chim. Acta, 188:39, 1990. |