| Hb Bari | alpha45(CE3)His->Gln |
|---|
| CONTACT | External; heme contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X moves with Hb A on cellulose acetate (pH 8.4) and on citrate agar | ||
| CHROMATOGRAPHY | Hb X did not separate by DEAE-cellulose chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation CAC->CAG; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Normal oxygen affinity, Bohr effect, and cooperativity | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in an Italian male | ||
| OTHER INFORMATION | Quantity in the heterozygote was estimated at about 20% |
| REFERENCES | |||
| 1. | Marinucci, M., Mavilio, F., Tentori, L., D'Erasmo, F., Colapietro, A., De Stasio, G., and Di Fonzo, S.: Biochim. Biophys. Acta, 622:315, 1980. | ||