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CONTACT | |
Internal; close contact with the E helix | |
HEMATOLOGY | |
Mild hemolytic anemia with reticulocytosis in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X takes the position of Hb S | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-cellulose chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GGT->CGT at codon 24 | |
FUNCTION STUDIES | |
Increased oxygen affinity; normal Bohr effect, and cooperativity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a female of German-Jewish ancestry | |
OTHER INFORMATION | |
Quantity in the heterozygote 30%; splenomegaly present | |
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REFERENCES |
1. | |
Ranney, H.M., Jacobs, A.S., Uden, L., and Zalusky, R.: Biochem. Biophys. Res. Commun., 33:1004, 1968. | |
2. | |
Bank, A., O'Donnell, J.V., and Braverman, A.S.: J. Lab. Clin. Med., 76:616, 1970. | |
3. | |
Farace, M.G. and Bank, A.: Biochim. Biophys. Acta, 312:591, 1973. | |