Hb Pierre-Bénite | beta90(F6)Glu->Asp |
---|
CONTACT | External | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.56 l/l) | ||
ELECTROPHORESIS | No separations with standard techniques; IEF showed a double Hb A band | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-beta chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAG->GAC or GAT at codon 90 | ||
FUNCTION STUDIES | Increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of a Caucasian family from Northern France | ||
OTHER INFORMATION | Quantity in the heterozygote 40-47% (densitometry) |
REFERENCES | |||
1. | Baklouti, F., Giraud, Y., Francina, A., Richard, G., Favre-Gilly, J., and Delaunay, J.: Hemoglobin, 12:171, 1988. |