Hb Etobicoke | alpha84(F5)Ser->Arg |
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CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb S (starch gel) at alkaline pH but not at acidic pH (agar gel) | ||
CHROMATOGRAPHY | Hb X and Hb A separate by cation and anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting or by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGC->AGG or CGC or AGA; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Canadian family of Northern Irish ancestry and in a newborn male of French-Cherokee Indian-English descent | ||
OTHER INFORMATION | Quantity in the heterozygote 15-20% |
REFERENCES | |||
1. | Crookston, J.H., Farquharson, H.A., Beale, D., and Lehmann, H.: Can. J. Biochem., 47: 143, 1969. | ||
2. | Headlee, M.G., Nakatsuji, T., Lam, H., Wrightstone, R.N., and Huisman, T.H.J.: Hemoglobin, 7:285, 1983. |