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CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb G on starch gel and slightly slower than Hb G on cellulose acetate at alkaline pH | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by anion and cation exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic peptides are separated by cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
A CCG->CTG mutation at codon 95 of the alpha2-globin gene (Ref. 5) | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity; decreased heme-heme interaction; normal Bohr effect | |
STABILITY | |
Increased dissociation into dimers (oxyHb); tetramers (deoxyHb) | |
OCCURRENCE | |
Found in several Black families and in a Portuguese family | |
OTHER INFORMATION | |
Quantity in heterozygotes 14-16%; found in combination with Hb S; also in combination with alpha-thal | |
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REFERENCES |
1. | |
Huisman, T.H.J., Adams, H.R., Wilson, J.B., Efremov, G.D., Reynolds, C.A., and Wrightstone, R.N.: Biochim. Biophys. Acta, 200:578, 1970. | |
2. | |
Smith, L.L., Plese, C.F., Barton, B.P., Charache, S., Wilson, J.B., and Huisman, T.H.J.: J. Biol. Chem., 247:1433, 1972. | |
3. | |
Wrightstone, R.N., Hubbard, M., and Huisman, T.H.J.: Acta Haematol., 51: 315, 1974. | |
4. | |
North, M.L., Garel, M.C., Thillet, J., Oberling, Fr., Lang, J.M., Mayer, S., and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 15:460, 1975. | |
5. | |
Smetanina, N.S., Leonova, J.Y., Levy, N., and Huisman, T.H.J.: Biochim. Biophys. Acta, 1315:188, 1996 | |