Hb Montreal | Deletion of Asp-Gly-Leu- at beta73, beta74, beta75; |
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insertion of Ala-Arg-Cys-Gln- |
HEMATOLOGY | Moderately severe hemolytic anemia; Heinz bodies; reticulocytosis | ||
ELECTROPHORESIS | Hb X moves like Hb D in IEF | ||
CHROMATOGRAPHY | Hb X elutes much slower than Hb A2 on a cation exchange HPLC column; the betaX chain elutes ahead of betaA (partially separated) on a reversed phase HPLC column | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Modified sequence determined between codons 75 and 77 of the beta gene; see original paper for details | ||
FUNCTION STUDIES | Not done | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 7-year-old French-Canadian male but not in his parents | ||
OTHER INFORMATION | Hb X 15-20% of total Hb |
REFERENCES | |||
1. | Plaseska, D., Dimovski, A.J., Wilson, J.B., Webber, B.B., Hume, H.A., and Huisman, T.H.J.: Blood, 77:178, 1991. |