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CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Mild erythrocytosis and microcytosis in the heterozygote | |
ELECTROPHORESIS | |
Hb A moves to the position of Hb J at alkaline pH | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis | |
DNA ANALYSES | |
A CGG->CAG mutation at codon 92 of the alpha2alpha1 hybrid gene that remains on a chromosome with the 3.7 kb deletion (Ref. 7) | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity; normal Bohr effect; decreased cooperativity | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in several, partially native, families living in South Africa | |
OTHER INFORMATION | |
Quantity in heterozygotes ~23% (Ref. 7); also found in combination with Hb E, and in a homozygote | |
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REFERENCES |
1. | |
Botha, M.C., Beale, D., Isaacs, W.A., and Lehmann, H.: Nature, 212:792, 1966. | |
2. | |
Lines, J.G. and McIntosh, R.: Nature, 215:297, 1967. | |
3. | |
Ogawa, S., Shulman, R.G., Kynoch, P.A.M., and Lehmann, H.: Nature, 225:1042, 1970. | |
4. | |
Charache, S. and Jenkins, T.: J. Clin. Invest., 50:1554, 1971. | |
5. | |
Nagel, R.L., Gibson, Q.H., and Jenkins, T.: J. Mol. Biol., 58:171. | |
6. | |
Botha, M.C., Stathopoulou, R., Lehmann, H., Rees, J.S., and Plowman, D.: FEBS Lett., 96:331, 1978. | |
7. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |