| 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. | ||