| Hb Sunnybrook | beta36(C2)Pro->Arg |
|---|
| 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. | ||