Hb Debrousse | beta96(FG3)Leu->Pro |
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CONTACT | Heme contact | ||
HEMATOLOGY | Chronic hemolytic anemia; hemoglobinuria; reticulocytosis | ||
ELECTROPHORESIS | Not easily observed by cellulose acetate electrophoresis and IEF | ||
CHROMATOGRAPHY | The betaX chain separates from betaA and alpha by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | A CTG->CCG mutation at codon 96 | ||
FUNCTION STUDIES | Increased oxygen affinity; normal Bohr effect | ||
STABILITY | Decreased stability | ||
OCCURRENCE | Found in a 6-year-old of Italian/French descent; parents are normal | ||
OTHER INFORMATION | betaX = 35% of betaA+betaX |
REFERENCES | |||
1. | Lacan, P., Kister, J., Francina, A., Souillet, G., Galactéros, F., Delaunay, J., and Wajcman, H.: Am. J. Hematol., 51:276, 1996. |