Hb Bougardirey-Mali | beta119(GH2)Gly->Val |
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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. |