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CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
(Mild) erythrocytosis in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb J on starch gel at alkaline pH but not on citrate agar at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A are readily separated by anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation CGG->CTG; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity; decreased cooperativity; normal Bohr effect; 2,3-DPG and IHP partially restore cooperativity | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Found in a German-Irish family and in a Japanese family | |
OTHER INFORMATION | |
Quantities in heterozygotes 20-35% | |
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REFERENCES |
1. | |
Clegg, J.B., Naughton, M.A., and Weatherall, D.J.: J. Mol. Biol., 19:91, 1966. | |
2. | |
Charache, S., Weatherall, D.J., and Clegg, J.B.: J. Clin. Invest., 45:813, 1966. | |
3. | |
Greer, J.: J. Mol. Biol., 62:241, 1971. | |
4. | |
Gibson, Q.H. and Nagel, R.L.: J. Biol. Chem., 249:7255, 1974. | |
5. | |
Imai, K.: J. Biol. Chem., 249:7607, 1974. | |
6. | |
Jones, C.M., Charache, S., and Hathaway, P.J.: Pediatr. Res., 13:851, 1979. | |
7. | |
Harano, T., Harano, K., Shibata, S., Ueda, S., Mori, H., and Imai, K.: Hemoglobin, 7:461, 1983. | |