Hb Olympia | beta20(B2)Val->Met |
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CONTACT | External | ||
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | No separation obtained | ||
CHROMATOGRAPHY | No separation obtained | ||
STRUCTURE STUDIES | Tryptic digestion of the betaA and betaX chain; fingerprinting; reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A GTG->ATG mutation at codon 20 (unpublished data) | ||
FUNCTION STUDIES | Increased oxygen affinity; cooperativity, 2,3-DPG, and Bohr effects appear normal | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in a few Caucasian families | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Stamatoyannopoulos, G., Nute, P.E., Adamson, J.W., Bellingham, A.J., and Funk, D.: J. Clin. Invest., 52:342, 1973. | ||
2. | Nakatsuji, T., Wilson, J.B., Lam, H., and Huisman, T.H.J.: J. Chromatogr., 259: 511, 1983. | ||
3. | Berlin, G. and Wranne, B.: Hemoglobin, 13:493, 1989. |