Hb Aubenas | beta26(B8)Glu->Gly |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slower than Hb A at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A readily separate in cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by HPLC; amino acid analysis; mass spectrometry | ||
DNA ANALYSES | A GAG->GGG mutation at codon 26 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in a French family | ||
OTHER INFORMATION | Quantity in the heterozygote 39%; in vitro chain synthesis alpha/(betaA+betaX) 0.96; no thalassemic features |
REFERENCES | |||
1. | Lacan, P., Francina, A., Promé, Galactéros, F., and Wajcman, H.: Hemoglobin, 20:113, 1996. |