|
|
|
|
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% | |