| Hb Bougardirey-Mali | beta119(GH2)Gly->Val |
|---|
| CONTACT | External; alpha1beta1 contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | No separation of Hb X and Hb A by standard procedures; Hb X moves like Hb F in IEF on polyacrylamide gel | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and by cation exchange chromatography; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported; presumed mutation GGC->GTC at codon 119 | ||
| FUNCTION STUDIES | Normal oxygen affinity | ||
| STABILITY | Slightly unstable | ||
| OCCURRENCE | Found in a 32-year-old African male from Mali | ||
| OTHER INFORMATION | Quantity in the heterozygote 35% |
| REFERENCES | |||
| 1. | Chen-Marotel, J., Braconnier, F., Blouquit, Y., Martin-Caburi, J., Kammerer, J., and Rosa, J.: Hemoglobin, 3:253, 1979. | ||