Hb Valparaiso | alpha88(F9)Ala->Gly |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X focuses at a pI slightly higher than Hb A and migrates between Hb A and Hb F on cellulose acetate; Hb X and Hb A can be separated by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Hb X was isolated by preparative IEF and digested with trypsin; tryptic peptides were separated by reversed phase HPLC; amino acid analysis; peptide alphaXT-9 was digested with protease V8 | ||
DNA ANALYSES | Not reported; presumed mutation GCG->GGG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Slight increase in oxygen affinity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in members of a Chilean family | ||
OTHER INFORMATION | Quantity in the heterozygote ~27% |
REFERENCES | |||
1. | Wajcman, H., de Montalembert, M., Girot, R., Kister, J., Maier-Redelsperger, M., and Galacteros, F.: Hemoglobin, 18:275, 1994. |