Hb Poitiers | alpha45(CE3)His->Asp |
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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. |