| Hb Poitiers | alpha45(CE3)His->Asp |
|---|
| CONTACT | External; heme contact | ||
| HEMATOLOGY | Normal in the heterozygote | ||
| ELECTROPHORESIS | Hb X separates from Hb A as a fast-moving band at alkaline pH; no separation at acidic pH; IEF is an excellent procedure to identify Hb X | ||
| CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephadex chromatography | ||
| STRUCTURE STUDIES | Tryptic digestion of alphaA chain; separation of tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing of the alphaT-6 peptide | ||
| DNA ANALYSES | Not reported; presumed mutation CAC->AAC; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Increased oxygen affinity and autoxidation | ||
| STABILITY | Normal | ||
| OCCURRENCE | Found in three members of a French family | ||
| OTHER INFORMATION | Quantity in the heterozygote was ~27% |
| REFERENCES | |||
| 1. | Bardakdjian, J., Kister, J., Wajcman, H., Boulard, P., Bohn, B., Blouquit, Y., and Galacteros, F.: Hemoglobin, 18:1, 1994. | ||