Hb Bruxelles | beta41(C7) or beta42(CD1) Phe->0 |
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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. |