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CONTACT | |
2,3-DPG binding site | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves between Hb A and Hb S at alkaline pH | |
CHROMATOGRAPHY | |
Separation of Hb A, Hb S, and Hb X by cation exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; amino acid analysis; cation exchange chromatography; HPLC | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->CGC at codon 2 | |
FUNCTION STUDIES | |
Increased oxygen affinity, particularly below pH 6 and above pH 8; decreased cooperativity and slight increase in Bohr effect; cooperativity restored and Bohr effect reduced with the addition of 2,3-DPG and IHP | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in a few Welsh-Dutch-English and Black families; one was also heterozygous for Hb S | |
OTHER INFORMATION | |
Quantity in the heterozygote 40-45% | |
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REFERENCES |
1. | |
Labossiere, A., Vella, F., Hiebert, J., and Galbraith, P.: Clin. Biochem., 5:46, 1972. | |
2. | |
Bonaventura, J., Bonaventura, C., Sullivan, B., and Godette, G.: J. Biol. Chem., 250: 9250, 1975. | |
3. | |
Powars, D., Schroeder, W.A., Shelton, J.R., Evans, L., and Vinetz, R.: Hemoglobin, 1: 97, 1977. | |