Hb New Mexico | beta100(G2)Pro->Arg |
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CONTACT | Internal; central cavity | ||
HEMATOLOGY | Erythrocytosis in the heterozygote who is also heterozygous for Hb S (PCV 0.45-0.51 l/l) | ||
ELECTROPHORESIS | Hb X migrated between Hb S and Hb C on citrate agar; Hb X moves like Hb S at alkaline pH | ||
CHROMATOGRAPHY | Attempts to isolate Hb X by DEAE-Sephadex and DEAE-Sephacel chromatography were unsuccessful as Hb X and Hb S migrate close together; Hb X and Hb A separate by anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of betaX+betaA chains; separation of peptides by fingerprinting and by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CCT->CGT at codon 100 | ||
FUNCTION STUDIES | Increased oxygen affinity; decreased cooperativity; Bohr effect reduced | ||
STABILITY | Stable | ||
OCCURRENCE | Found in a 6-year-old Black male but not in his parents | ||
OTHER INFORMATION | Quantities in the heterozygote: Hb X 53.5%; Hb S 42.2%; Hb A2 4.3% |
REFERENCES | |||
1. | Moo-Penn, W.F., McGuffey, J.E., Jue, D.L., Johnson, M.H., and Schum, T.: Biochim. Biophys. Acta, 832:192, 1985. |