Hb Poissy | beta56(D7)Gly->Arg; |
---|---|
beta86(F2)Ala->Pro |
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | Hb X moves like Hb Hamadan at alkaline pH, i.e. slower than Hb A and almost like Hb S | ||
CHROMATOGRAPHY | Hb X and Hb A separate by DEAE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GGC->CGC and GCC->CCC at codons 56 and 86 | ||
FUNCTION STUDIES | Increased oxygen affinity; decreased Bohr effect and cooperativity | ||
STABILITY | Mildly unstable; increased autooxidation | ||
OCCURRENCE | Found in a 56-year-old French male | ||
OTHER INFORMATION | The beta56 Gly->Arg replacement is found in Hb Hamadan |
REFERENCES | |||
1. | Lacombe, C., Craescu, C.T., Blouquit, Y., Kister, J., Poyart, C., Delanoe-Garin, J., Arous, N., Bardakdjian, J., Riou, J., Rosa, J., Schaeffer, C., and Galacteros, F.: Eur. J. Biochem., 153:655, 1985. |