Hb Milledgeville | alpha44(CE2)Pro->Leu |
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CONTACT | External | ||
HEMATOLOGY | Mild erythrocytosis | ||
ELECTROPHORESIS | Hb X and Hb A did not separate by electrophoretic methods, including IEF | ||
CHROMATOGRAPHY | Hb X did not separate by CM-cellulose or IRC-50; no abnormal globin chain could be isolated | ||
STRUCTURE STUDIES | Fingerprinting of peptides obtained by proteolysis of the entire alpha chain; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CCG->CTG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity, normal Bohr effect, reduced cooperativity (analyses of freshly collected blood) | ||
STABILITY | Normal | ||
OCCURRENCE | Found in three members of a Black family | ||
OTHER INFORMATION | Quantity in the heterozygote could not be determined |
REFERENCES | |||
1. | Honig, G.R., Vida, L.N., Shamsuddin, M., Mason, R.G., Schlumpf, H.W., and Luke, R.A.: Biochim. Biophys. Acta, 626:424, 1980. |