Hb Denmark Hill | alpha95(G2)Pro->Ala |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slower than Hb A at alkaline pH; best separation with IEF | ||
CHROMATOGRAPHY | Hb X was isolated by CM-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CCG->GCG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; decreased heme-heme interaction and Bohr effect | ||
STABILITY | Not studied in detail | ||
OCCURRENCE | Found in a West Indian female and a Spanish family | ||
OTHER INFORMATION | Quantity in heterozygotes 15-19% |
REFERENCES | |||
1. | Wiltshire, B.G., Clark, K.G.A., Lorkin, P.A., and Lehmann, H.: Biochim. Biophys. Acta, 278:459, 1972. | ||
2. | Vasseur, C., Francina, A., Wajcman, H., and Galacteros, F.: Hemoglobin, 15: 103, 1991. |