Hb Caen | alpha132(H15)Val->Gly |
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CONTACT | Heme contact | ||
HEMATOLOGY | Mild chronic hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X migrates between Hb F and Hb S on IEF | ||
CHROMATOGRAPHY | Not reported; the alphaA and alphaX chains separate by reversed phase HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GTG->GGG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a French Caucasian woman | ||
OTHER INFORMATION | Quantity in the heterozygote is low at 4-5% due to severe instability |
REFERENCES | |||
1. | Wajcman, H., Vasseur, C., Blouquit, Y., Rosa, J., Labie, D., Najman, A., Reman, O., Leporrier, M., and Galacteros, F.: Am. J. Hematol., 42:367, 1993. |