| Hb Saint-Jacques | beta140(H18)Ala->Thr |
|---|
| 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. | ||