Hb Rampa | alpha95(G2)Pro->Ser |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slightly faster than Hb S on starch gel and like Hb S on cellulose acetate at alkaline pH; Hb X does not separate from Hb A on agar gel at acidic pH | ||
CHROMATOGRAPHY | Hb X and Hb A were separated on a DEAE-cellulose column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CCG->TCG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased heme-heme interaction and Bohr effect | ||
STABILITY | Dissociation into dimers (oxyHb); tetramers (deoxyHb) | ||
OCCURRENCE | Found in a few Indian families and in a family of North European ancestry | ||
OTHER INFORMATION | Quantity in heterozygotes 15% |
REFERENCES | |||
1. | De Jong, W.W.W., Bernini, L.F., and Meera Khan, P.: Biochim. Biophys. Acta, 236:197, 1971. | ||
2. | Smith, L.L., Plese, C.L., Barton, B.P., Charache, S., Wilson, J.B., and Huisman, T.H.J.: J. Biol. Chem., 247:1434, 1972. |