Hb Ethiopia | alpha140(HC2)Tyr->His |
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ALSO KNOWN AS | Rouen | ||
CONTACT | alpha1beta2 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | An abnormal band can be observed by IEF close to Hb A; Hb X migrates as Hb A in cellulose acetate at alkaline pH | ||
CHROMATOGRAPHY | Hb X can be separated from Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; reversed phase HPLC to separate the peptides in the tryptic digest; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation TAC->CAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Moderately increased oxygen affinity; decreased heme-heme interaction; Bohr effect reduced by ~40% | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a newborn and father of Ethiopian descent; also found in an 81-year-old French male | ||
OTHER INFORMATION | Quantity in the heterozygote 19-26% |
REFERENCES | |||
1. | Webber, B.B., Wilson, J.B., Gu, L-H., and Huisman, T.H.J.: Hemoglobin, 16:441, 1992. | ||
2. | Wajcman, H., Kister, J., Marden, M., Lahary, A., Monconduit, M., and Galacteros, F.: Biochim. Biophys. Acta, 1180:53, 1992. |