Hb Saint Mandé | beta102(G4)Asn->Tyr |
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CONTACT | Internal; heme and alpha1beta2 contacts | ||
HEMATOLOGY | Cyanosis in the heterozygote; normal | ||
ELECTROPHORESIS | Hb X and Hb A can be separated at alkaline pH; Hb X moves as Hb F; excellent separation by IEF | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAC->TAC at codon 102 | ||
FUNCTION STUDIES | Decreased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 26-year-old French male and his mother | ||
OTHER INFORMATION | Quantity in the heterozygote 38% |
REFERENCES | |||
1. | Arous, N., Braconnier, F., Thillet, J., Blouquit, Y., Galacteros, F., Chevrier, M., Bordahandy, C., and Rosa, J.: FEBS Lett., 126:114, 1981. |