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CONTACT | |
Central cavity | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; excellent separation by IEF; at acidic pH Hb X moves between Hb A and Hb F, close to Hb F | |
CHROMATOGRAPHY | |
Hb X and Hb A separate by DEAE-Sephadex chromatography; the betaX and betaA chains separate by reversed phase HPLC; betaX elutes between betaA and alpha | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing; S. aureus V8 protease treatment; reversed phase HPLC; mass spectrometry | |
DNA ANALYSES | |
Not reported; presumed mutation AGG->AGC or AGT at codon 104 | |
FUNCTION STUDIES | |
Normal; decreased Bohr effect | |
STABILITY | |
Slightly unstable | |
OCCURRENCE | |
Found in members of a Maltese family living in Australia | |
OTHER INFORMATION | |
Quantity in the heterozygote ~50% | |
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REFERENCES |
1. | |
Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., and Kronenberg, H.: Biochim. Biophys. Acta, 393:195, 1975. | |
2. | |
Kister, J., Barbadjian, J., Blouquit, Y. Bohn, B., Galacteros, F., and Poyart, C.: Hemoglobin, 13:567, 1989. | |
3. | |
Jensen, O.N. and Roepstorff, P.: Hemoglobin, 15:497, 1991. | |