Hb Prato | alpha31(B12)Arg->Ser |
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CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves faster than Hb A at alkaline pH but does not separate at acidic pH | ||
CHROMATOGRAPHY | Hb X separates from Hb A by DE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting on paper or reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGG->AGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity, Bohr effect, and cooperativity | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in two Italian families | ||
OTHER INFORMATION | Quantity in heterozygotes 20-30% |
REFERENCES | |||
1. | Marinucci, M., Mavilio, F., Massa, A., Gabbianelli, M., Fontanarosa, P.P., Camagna, A., Ignesti, C., and Tentori, L.: Biochim. Biophys. Acta, 578:534, 1979. | ||
2. | De Marco, E.V., Crescibene, L., Pascua, A., Brancati, C., Bria, M., and Qualtieri, A.: Hemoglobin, 16:275, 1992. |