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HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A do not separate by standard methodology at both alkaline and acidic pH | |
CHROMATOGRAPHY | |
Not done | |
STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX+betaA chains; separation of peptides by cation exchange chromatography; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutations GAG->AAG and AAG->GAG at codons 6 and 95 | |
FUNCTION STUDIES | |
Not done | |
STABILITY | |
Not reported | |
OCCURRENCE | |
Observed in a 47-year-old Black male suffering from hypertension who died due to a cerebro-vascular accident a few days after admission to hospital; there are no living blood relatives | |
OTHER INFORMATION | |
Accidentally observed when sample was used as a control for peptide mapping; the beta6 Glu->Lys mutation is characteristic for Hb C and beta95 Lys->Glu for Hb N-Baltimore | |