Hb Saint-Jacques | beta140(H18)Ala->Thr |
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CONTACT | Internal | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.56 l/l) | ||
ELECTROPHORESIS | No separation obtained | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of betaX and betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCC->ACC at codon 140 | ||
FUNCTION STUDIES | Increased oxygen affinity; normal Bohr effect | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 36-year-old Caucasian male living in France | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Rochette, J., Varet, B., Boissel, J.P., Clough, K., Labie, D., Wajcman, H., Bohn, B., Magne, P., and Poyart, C.: Biochim. Biophys. Acta, 785:14:1984. |