Hb Sunnybrook | beta36(C2)Pro->Arg |
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CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Mild erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | Hb X was easily separated from Hb A by alkaline electrophoresis with a mobility slightly faster than Hb S; did not separate from Hb A by agar gel electrophoresis | ||
CHROMATOGRAPHY | Hb X moves like Hb E in cation exchange HPLC; does not separate from Hb A2; Hb X elutes between Hb A2 and Hb A on DEAE-cellulose chromatography; the betaX chain separates from the betaA and alpha chains by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of the peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CCT->CGT at codon 36 | ||
FUNCTION STUDIES | Increased oxygen affinity; slightly altered Bohr effect | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a male of European descent | ||
OTHER INFORMATION | Quantity in the heterozygote ~35% |
REFERENCES | |||
1. | Ali, M.A.M., Pinkerton, P., Chow, S.W.S., Zaetz, S.D., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 12:137, 1988. |