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CONTACT | |
Internal; alpha2beta1 contact | |
HEMATOLOGY | |
Erythrocytosis in the heterozygote (PCV 0.45-0.52 l/l) | |
ELECTROPHORESIS | |
No separation observed | |
CHROMATOGRAPHY | |
Excellent separation of Hb X and Hb A on a CM-Sephadex column | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation TAT->TGT at codon 145 | |
FUNCTION STUDIES | |
Increased oxygen affinity; decreased cooperativity; normal Bohr effect | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in several members of two Caucasian families, and in members of a Canadian family of Greek descent | |
OTHER INFORMATION | |
Quantity in the heterozygote 37-44%; increased resistance to alkali denaturation | |
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REFERENCES |
1. | |
Stamatoyannopoulos, G., Yoshida, A., Adamson, J., and Heinenberg, S.: Science, 159: 741, 1968. | |
2. | |
Adamson, J.W., Parer, J.T., and Stamatoyannopoulos, G.: J. Clin. Invest., 48:1376, 1969. | |
3. | |
Nagai, M., Sugita, Y., and Yoneyama, Y.: J. Biol. Chem., 247:285, 1972. | |
4. | |
Greer, J. and Perutz, M.F.: Nature, 230:261, 1971. | |
5. | |
Dingle, B., Farquharson, H., Williams, D., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 3:209, 1979. | |