Hb Hotel-Dieu | beta99(G1)Asp->Gly |
---|
CONTACT | Internal; alpha1beta2 contact | ||
HEMATOLOGY | Erythrocytosis in the heterozygote (PCV 0.42-0.63 l/l) | ||
ELECTROPHORESIS | Hb X migrates slightly slower than Hb F at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated by DEAE-Sephacel chromatography; Hb X elutes free of Hb A2 and Hb A | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GAT->GGT at codon 99 | ||
FUNCTION STUDIES | Increased oxygen affinity; decreased cooperativity | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in three members of a Caucasian French family | ||
OTHER INFORMATION | Quantity in the heterozygote 38-48% |
REFERENCES | |||
1. | Blouquit, Y., Braconnier, F., Galacteros, F., Arous, N., Soria, J., Zittoun, R., and Rosa, J.: Hemoglobin, 5:19, 1981. |