Hb J-Cairo | beta65(E9)Lys->Gln |
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CONTACT | External | ||
HEMATOLOGY | Slight hypochromic microcytic anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH (Hb X is faster than Hb A) but not at acidic pH; excellent separation by IEF | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->CAG at codon 65 | ||
FUNCTION STUDIES | Decreased oxygen affinity and cooperativity; normal Bohr effect | ||
STABILITY | Normal; increased auto-oxidation | ||
OCCURRENCE | Found in an Egyptian female and her father | ||
OTHER INFORMATION | Quantity in heterozygotes 40-45% |
REFERENCES | |||
1. | Garel, M.C., Hassan, W., Coquelet, M.T., Goossens, M., and Rosa, J.: Biochim. Biophys. Acta, 420:97, 1976. |