| Hb Bruxelles | beta41(C7) or beta42(CD1) Phe->0 |
|---|
| HEMATOLOGY | Severe hemolytic anemia; splenomegaly; Heinz bodies; reticulocytosis | ||
| ELECTROPHORESIS | Hb X moves between Hb A and Hb F in IEF | ||
| CHROMATOGRAPHY | The betaX chain separates from betaA and alpha by reversed phase HPLC (elution order: betaX, betaA, alpha) | ||
| STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; automated sequencing | ||
| DNA ANALYSES | Not reported | ||
| FUNCTION STUDIES | Decreased oxygen affinity of whole blood | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in a Belgian child, but not in the parents | ||
| OTHER INFORMATION | Quantity in the heterozygote ~35% (chain analysis) |
| REFERENCES | |||
| 1. | Blouquit, Y., Bardakdjian, J., Lena-Russo, D., Arous, N., Perrimond, H., Orsini, A., Rosa, J., and Galacteros, F.: Hemoglobin, 13:465, 1989. | ||