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CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X migrates to the position of Hb S on starch gel at alkaline pH | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by anion and cation exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by cation exchange chromatography and by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
A CCG->CGG mutation at codon 95 of the alpha1 gene (Ref. 4) | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity; decreased heme-heme interaction and Bohr effect | |
STABILITY | |
Increased dissociation (oxyHb); tetramer (deoxyHb) | |
OCCURRENCE | |
Found in Maltese families and in a 72-year-old Japanese male | |
OTHER INFORMATION | |
Quantity in heterozygotes 10-12.5% | |
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REFERENCES |
1. | |
Bannister, W.H., Grech, J.L., Plese, C.F., Smith, L.L., Barton, B.P., Wilson, J.B., Reynolds, C.A., and Huisman, T.H.J.: Eur. J. Biochem., 29:301, 1972. | |
2. | |
Lorkin, P.A., Casey, R., Clark, K.G.A., and Lehmann, H.: FEBS Lett., 39:111, 1974. | |
3. | |
Harano, T., Harano, K., Shibata, S., Ueda, S., Tsuchida, J., Maramoto, K., Yakeishi, Y., and Murakami, T.: Hemoglobin, 7:471, 1983. | |
4. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |