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CONTACT | |
Internal; alpha2beta1 contact | |
HEMATOLOGY | |
Erythrocytosis in the heterozygote (PCV 0.60-0.69 l/l) | |
ELECTROPHORESIS | |
No separation of Hb X and Hb A at alkaline pH; at acidic pH, Hb X moves between Hb A and Hb S, closer to Hb A | |
CHROMATOGRAPHY | |
Hb X was isolated on a column of CM-cellulose in the cold | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain or total Hb; separation of peptides by fingerprinting; amino acid analysis; carboxypeptidase A | |
DNA ANALYSES | |
Not reported; presumed mutation TAT->CAT at codon 145 | |
FUNCTION STUDIES | |
Increased oxygen affinity; no cooperativity; normal Bohr effect and 2,3-DPG level | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in a 12-year-old Chinese family but not in the parents, and in six members of a Canadian family | |
OTHER INFORMATION | |
Quantity in the heterozygote 45% | |
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REFERENCES |
1. | |
Bunn, H.F., Bradley, T.B., Davis, W.E., Drysdale, J.W., Burke, J.F., Beck, W.S., and Lauer, M.B.: J. Clin. Invest., 51:2299, 1972. | |
2. | |
Adamson, J.W., Hayashi, A., Stamatoyannopoulos, G., and Burger, W.F.: J. Clin. Invest., 51:2883, 1972. | |
3. | |
Olson, J.S. and Gibson, Q.H.: J. Biol. Chem., 247:3662, 1972. | |
4. | |
Schmidt, R.M., Jue, D.L., Ali, M.A.M., Lyonnais, J., and Moo-Penn, W.F.: Am. J. Clin. Pathol., 66:449, 1976. | |