Hb Moscva | beta24(B6)Gly->Asp |
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CONTACT | Internal; close contact with the E helix | ||
HEMATOLOGY | Hemolytic anemia with reticulocytosis in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting; amino acid analysis; thermolysin digestion; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GGT->GAT at codon 24 | ||
FUNCTION STUDIES | Slightly decreased oxygen affinity; small change in Bohr effect and cooperativity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a few members of a Russian family | ||
OTHER INFORMATION | Quantity in the heterozygote not determined |
REFERENCES | |||
1. | Idelson, L.I., Didkowsky, N.A., Casey, R., Lorkin, P.A., and Lehmann, H.: Nature, 249:768, 1974. |