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CONTACT | |
External; surface crevice; "distal histidine" | |
HEMATOLOGY | |
Normal in the heterozygote; certain oxidative drugs precipitate hemolytic episodes with inclusion bodies | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated at alkaline pH; Hb X moves slightly faster than Hb S | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; chymotryptic digestion | |
DNA ANALYSES | |
Not reported; presumed mutation CAT->CGT at codon 63 | |
FUNCTION STUDIES | |
Increased oxygen affinity; decreased cooperativity; normal Bohr effect | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in families from Switzerland and from the USA | |
OTHER INFORMATION | |
Quantity in the heterozygote 22-35%; stability of the variant is influenced by oxidative drugs | |
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REFERENCES |
1. | |
Hitzig, W.H., Frick, P.G., Betke, K., and Huisman, T.H.J.: Helv. Paediatr. Acta, 15:399, 1960. | |
2. | |
Muller, C.J. and Kingma, S.: Biochim. Biophys. Acta, 40:595, 1961. | |
3. | |
Frick, P.G., Hitzig, W.H., and Betke, K.: Blood, 20:261, 1962. | |