Hb Belliard | alpha56(E5)Lys->Asn |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Cellulose acetate (alkaline pH) shows an abnormal band that migrated towards the anode | ||
CHROMATOGRAPHY | Hb A and Hb X can be separated by anion exchange HPLC | ||
STRUCTURE STUDIES | The variant was identified by separating the tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAG->AAT or AAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a family from Spain | ||
OTHER INFORMATION | Quantity in heterozygotes about 25% |
REFERENCES | |||
1. | Wajcman, H., Gombaud-Saintonge, G., Galacteros, F., Martha, M., and Vertongen, F.: Hemoglobin, 13:157, 1989. |