Hb Bari | alpha45(CE3)His->Gln |
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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. |