Hb J-Cordoba | beta95(FG2)Lys->Met |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; no separation at acidic pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAG->ATG at codon 95 | ||
FUNCTION STUDIES | Slightly increased oxygen affinity; decreased cooperativity | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a 1-year-old girl born in Cordoba, Argentina | ||
OTHER INFORMATION | Quantity in the heterozygote ~45% |
REFERENCES | |||
1. | Bardakdjian, J., Kister, J., Rhoda, M.D., Marden, M., Arous, N., De Leon, J., North, M.L., Lacombe, C., Blouquit, Y., Castracane, C., Riou, J., Rosa, J., and Galacteros, F.: Hemoglobin, 12:1, 1988. |