Hb Pasadena | beta75(E19)Leu->Arg |
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CONTACT | Internal | ||
HEMATOLOGY | Compensated hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves between Hb S and Hb F; no separation at acidic pH | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CGG at codon 75 | ||
FUNCTION STUDIES | Decreased oxygen affinity and cooperativity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 27-year-old male of Southern French ancestry but not in his parents | ||
OTHER INFORMATION | Quantity in the heterozygote 31-32% |
REFERENCES | |||
1. | Johnson, C.S., Moyes, D., Schroeder, W.A., Shelton, J.B., Shelton, J.R., and Beutler, E.: Biochim. Biophys. Acta, 623:360, 1980. |