Hb Questembert | alpha131(H14)Ser->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | A faint abnormal band is observed by cellulose acetate at alkaline pH and by IEF | ||
CHROMATOGRAPHY | Not reported; the alphaA and alphaX chains separated by reversed phase HPLC | ||
STRUCTURE STUDIES | The AE-alphaX chain was digested with trypsin; the peptides were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TCT->CCT; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Highly unstable | ||
OCCURRENCE | Found in several members of a large French family | ||
OTHER INFORMATION | Quantity in the heterozygote ~2% 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. |