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CONTACT | |
External; partly buried | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X appeared as a band with a mobility between Hb F and Hb S on cellulose acetate electrophoresis at pH 8.6; no separation by citrate agar electrophoresis at pH 6.0 | |
CHROMATOGRAPHY | |
Hb A and Hb X are partially separated by DEAE-Sephadex or by CM-cellulose chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GAC->GGC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Slightly decreased oxygen affinity | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Found in a Yugoslav woman, in a 24-year-old Caucasian female and her two children in the USA, and in a Japanese male | |
OTHER INFORMATION | |
Quantity in heterozygotes ~10% | |
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REFERENCES |
1. | |
Como, P.F., Wilkinson, T., Kronenberg, H., Raven, J.L., Prior, J., and Trent, R.J.: Hemoglobin, 13:393, 1989. | |
2. | |
Moo-Penn, W.F., Jue, D.J., Johnson, M.H., and Therrell, B.L.: Hemoglobin, 11: 61, 1987. | |
3. | |
Harano, T., Harano, K., Imai, K., and Terunuma, S.: Hemoglobin, 20:75, 1996. | |