Hb Cowtown | beta146(HC3)His->Leu |
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CONTACT | External; alpha1beta1 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.51-0.54 l/l) | ||
ELECTROPHORESIS | No separation of Hb X and Hb A by standard procedures | ||
CHROMATOGRAPHY | Hb X was isolated by Bio-Rex 70 chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; carboxypeptidases A and B | ||
DNA ANALYSES | Not reported; presumed mutation CAC->CTC at codon 146 | ||
FUNCTION STUDIES | Increased oxygen affinity; decreased Bohr effect; normal cooperativity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a Caucasian father and son | ||
OTHER INFORMATION | Quantity in the heterozygote 40-45% |
REFERENCES | |||
1. | Schneider, R.G., Bremner, J.E., Brimhall, B., Jones, R.T., and Shih, T-B.: Am. J. Clin. Pathol., 72:1028, 1979. | ||
2. | Perutz, M.F., Fermi, G., and Shih, T-B.: Proc. Natl. Acad. Sci. USA, 81:4781, 1984. |