Hb Athens-GA | beta40(C6)Arg->Lys |
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ALSO KNOWN AS | Waco | ||
CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH and by IEF; Hb X moves slightly slower than Hb A | ||
CHROMATOGRAPHY | Hb X and Hb A were separated by both cation and anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; peptides separated by cation exchange chromatography or reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGG->AAG at codon 40 | ||
FUNCTION STUDIES | Increased oxygen affinity; Bohr effect and cooperativity normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a few Caucasian families in the Southeastern USA | ||
OTHER INFORMATION | Quantity in the heterozygote 47.4-51.4% |
REFERENCES | |||
1. | Brown, W.J., Niazi, G.A., Jayalakshmi, M., Abraham, E.C., and Huisman, T.H.J.: Biochim. Biophys. Acta, 439:70, 1976. | ||
2. | Moo-Penn, W.F., Johnson, M.H., Bechtel, K.C., Jue, D.L., Therrell, B.L., Jr., and Schmidt, R.M.: Arch. Biochem. Biophys., 179:86, 1977. |