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ALSO KNOWN AS | |
J-Pontoise | |
CONTACT | |
Internal | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X separates from Hb A at alkaline pH but not at acidic pH; moves faster than Hb A on cellulose acetate | |
CHROMATOGRAPHY | |
Hb X was isolated on a DEAE-Sephadex column | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GCC->GAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Increased oxygen affinity, normal Bohr effect, and heme-heme interaction; a normal 2,3-DPG effect | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in Spanish families | |
OTHER INFORMATION | |
Quantity in heterozygotes about 12% | |
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REFERENCES |
1. | |
Thillet, J., Blouquit, Y., Perrone, F., and Rosa, J.: Biochim. Biophys. Acta, 491: 16, 1977. | |
2. | |
Gonzalez-Redondo, J.M., Wilson, J.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:47, 1987. | |