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ALSO KNOWN AS | |
Dakar | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A at alkaline pH | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephadex and DEAE-cellulose chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by cation exchange chromatography or fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; mismatched intragenic crossover suggested | |
FUNCTION STUDIES | |
Nearly normal oxygen affinity; Bohr effect and cooperativity normal | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a few Black families | |
OTHER INFORMATION | |
Quantity in the heterozygote 8%; found in association with alpha-thal | |
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REFERENCES |
1. | |
Huisman, T.H.J., Wilson, J.B., Gravely, M., and Hubbard, M.: Proc. Natl. Acad. Sci. USA, 71:3270, 1974. | |
2. | |
Huisman, T.H.J. and Miller, A.: Am. J. Hum. Genet., 28:363, 1976. | |
3. | |
Garel, M.C., Goossens, M., Oudart, J.L., Blouquit, Y., Thillet, J., and Rosa, J.: Biochim. Biophys. Acta, 453:459, 1976. | |
4. | |
Scott, A.F., Phillips, J.A., III, Young, K.E., Kazazian, H.H., Jr., Smith, K.D., Charache, S., and Clegg, J.B.: Am. J. Hum. Genet., 33:129, 1981. | |
5. | |
Cleek, M.P., Gardiner, M.B., Reese, A.L., Harris, H.F., Felice, A.E., and Huisman, T.H.J.: Am. J. Hum. Genet., 35:1314, 1983. | |