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| CONTACT | |
Central cavity | |
| HEMATOLOGY | |
Normal in the heterozygote | |
| ELECTROPHORESIS | |
Hb X moves faster than Hb A on cellulose acetate at alkaline pH, and migrates midway between Hb A and Hb F on agar gel at pH 6.0; excellent separation on IEF | |
| CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation exchange HPLC | |
| STRUCTURE STUDIES | |
Tryptic peptides of the isolated alpha chains were separated by reversed phase HPLC; amino acid analysis; sequencing | |
| DNA ANALYSES | |
Not reported; presumed mutation AAG->GAG; alpha2 or alpha1 | |
| FUNCTIONAL STUDIES | |
Not reported | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Found as a de novo mutation in a diabetic woman of Scottish ancestry and her two daughters | |
| OTHER INFORMATION | |
Quantity in the heterozygote ~22% | |