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CONTACT | |
Internal; heme and alpha1beta2 contacts | |
HEMATOLOGY | |
Normal but with a modest reticulocytosis and Heinz body formation | |
ELECTROPHORESIS | |
Hb X moves anodal to Hb A2 at alkaline pH and by IEF | |
CHROMATOGRAPHY | |
The betaX chain separates completely from the other chains by reversed phase HPLC (elution order: betaX, betaA, alpha) | |
STRUCTURE STUDIES | |
Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GTG->GCG at codon 98 | |
FUNCTION STUDIES | |
Increased oxygen affinity; decreased cooperativity; normal Bohr effect | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in two unrelated Caucasian adults but not in their parents | |
OTHER INFORMATION | |
Quantity in the heterozygote 36% | |
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REFERENCES |
1. | |
Gacon, G., Wajcman, H., Labie, D., and Cosson, A.: FEBS Lett., 58:238, 1975. | |
2. | |
Gacon, G., Krishnamoorthy, R., Wajcman, H., Labie, D., Tapon, J., and Cosson, A.: Biochim. Biophys. Acta, 490:156, 1977. | |
3. | |
Bird, A.R., Elliott, T., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:193, 1989. | |