Hb Val de Marne | alpha133(H16)Ser->Arg |
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ALSO KNOWN AS | Footscray | ||
CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves between Hb F and Hb A on IEF | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by cation exchange HPLC | ||
STRUCTURE STUDIES | The AE-alphaX chain was digested with trypsin; the peptides were separated by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AGC->CGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Oxygen affinity moderately increased | ||
STABILITY | Stable | ||
OCCURRENCE | Found in four members of a French family and in a Polish-Hungarian family | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at 16%; asymmetric hybrid formation |
REFERENCES | |||
1. | Wajcman, H., Kister, J., M'Rad, A., Marden, M.C., Riou, J., and Galacteros, F.: Hemoglobin, 17:407, 1993. | ||
2. | Owen, M.C. and Hendy, J.G.: Hemoglobin, 18:19, 1994. |